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8. CDIO-CT collaborative strategy for solving complex STEM problems in system modeling and simulation: an illustration of solving the period of mathematical pendulum

Author

Zhang, Hong-Yan, Zhou, Yu, Li, Yu-Tao, Li, Fu-Yun, and Jiang, Yong-Hui

Subjects
Physics - Physics Education, Computer Science - Computers and Society, Mathematics - Numerical Analysis
Abstract

The problem-project-oriented STEM education plays a significant role in training students' ability of innovation. Although the conceive-design-implement-operate (CDIO) approach and the computational thinking (CT) are hot topics in recent decade, there are still two deficiencies: the CDIO approach and CT are discussed separately and a general framework of coping with complex STEM problems in system modeling and simulation is missing. In this paper, a collaborative strategy based on the CDIO and CT is proposed for solving complex STEM problems in system modeling and simulation with a general framework, in which the CDIO is about ``how to do", CT is about ``how to think", and the project means ``what to do". As an illustration, the problem of solving the period of mathematical pendulum (MP) is discussed in detail. The most challenging task involved in the problem is to compute the complete elliptic integral of the first kind (CEI-1). In the philosophy of STEM education, all problems have more than one solutions. For computing the CEI-1, four methods are discussed with a top-down strategy, which includes the infinite series method, arithmetic-geometric mean (AGM) method, Gauss-Chebyshev method and Gauss-Legendre method. The algorithms involved can be utilized for R & D projects of interest and be reused according to the requirements encountered. The general framework for solving complex STEM problem in system modeling and simulation is worth recommending to the college students and instructors., Comment: 27 pages, 12 figures, 11 tables

Published
2022
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14. CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate

Author

Li, Bang, Zhao, Hui, Tu, Zhuchi, Yang, Weili, Han, Rui, Wang, Lu, Luo, Xiaopeng, Pan, Mingtian, Chen, Xiusheng, Zhang, Jiawei, Xu, Huijuan, Guo, Xiangyu, Yan, Sen, Yin, Peng, Zhao, Zhiguang, Liu, Jianrong, Luo, Yafeng, Li, Yuefeng, Yang, Zhengyi, Zhang, Baogui, Tan, Zhiqiang, Xu, Hao, Jiang, Tianzi, Jiang, Yong-hui, Li, Shihua, Zhang, Yong Q., and Li, Xiao-Jiang

Published
2023
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19. Psychometric Properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch Analysis

Author

Yan, Weili, Siegert, Richard J., Zhou, Hao, Zou, Xiaobing, Wu, Lijie, Luo, Xuerong, Li, Tingyu, Huang, Yi, Guan, Hongyan, Chen, Xiang, Mao, Meng, Xia, Kun, Zhang, Lan, Li, Erzhen, Li, Chunpei, Zhang, Xudong, Zhou, Yuanfeng, Shih, Andy, Fombonne, Eric, Zheng, Yi, Han, Jisheng, Sun, Zhongsheng, Jiang, Yong-hui, and Wang, Yi

Abstract

The recent adaptation of a Chinese parent version of the Autism Spectrum Rating Scale showed the Modified Chinese Autism Spectrum Rating Scale to be reliable and valid for use in China. The aim of this study was to test the Modified Chinese Autism Spectrum Rating Scale for fit to the Rasch model. We analysed data from a previous study of the Modified Chinese Autism Spectrum Rating Scale which comprised 1593 non-cases and 420 children diagnosed with autism spectrum disorder. We used super items based on groups of locally dependent items and item deletion when necessary to achieve good fit to the model for each of the three subscales identified by Zhou et al. and for the full 59-item Modified Chinese Autism Spectrum Rating Scale. The resulting conversion tables enable the use of genuine unidimensional, interval level scores for the total score and three subscales. Reliability was high with Person Separation Index values ranging from 0.83 to 0.89 for the three subscales and 0.79 for the total scale. In addition, we were able to identify a full-scale version of the Autism Spectrum Rating Scale and its three subscales that are all free of differential item functioning in relation to the five person factors recorded namely age, sex, caseness, relative and city. In future studies, the Teacher version of the Modified Chinese Autism Spectrum Rating Scale needs examination with Rasch analysis.

Published
2021
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22. IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells

Author

Newman, John H, Shaver, Aaron, Sheehan, Jonathan H, Mallal, Simon, Stone, John H, Pillai, Shiv, Bastarache, Lisa, Riebau, Derek, Allard‐Chamard, Hugues, Stone, William M, Perugino, Cory, Pilkinton, Mark, Smith, Scott A, McDonnell, Wyatt J, Capra, John A, Meiler, Jens, Cogan, Joy, Xing, Kelly, Mahajan, Vinay S, Mattoo, Hamid, Hamid, Rizwan, Phillips, John A, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell‐Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean‐Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hanchard, Neil A, Handley, Lori H, Herzog, Matthew R, High, Francis, Holm, Ingrid A, Hom, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong‐hui, and Johnston, Jean M

Subjects
Biological Sciences, Genetics, Rare Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, CD4-Positive T-Lymphocytes, Genetic Variation, Humans, Immunoglobulin G, Immunoglobulin G4-Related Disease, Male, Middle Aged, T-Lymphocytes, Cytotoxic, cytotoxic lymphocytes, heritable, IgG4-RD, Undiagnosed Disease Network, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry
Abstract

BackgroundFamily screening of a 48-year-old male with recently diagnosed IgG4-related disease (IgG4-RD) revealed unanticipated elevations in plasma IgG4 in his two healthy teenaged sons.MethodsWe performed gene sequencing, immune cell studies, HLA typing, and analyses of circulating cytotoxic CD4+ T lymphocytes and plasmablasts to seek clues to pathogenesis. DNA from a separate cohort of 99 patients with known IgG4-RD was also sequenced for the presence of genetic variants in a specific gene, FGFBP2.ResultsThe three share a previously unreported heterozygous single base deletion in fibroblast growth factor binding protein type 2 (FGFBP2), which causes a frameshift in the coding sequence. The FGFBP2 protein is secreted by cytotoxic T-lymphocytes and binds fibroblast growth factor. The variant sequence in the FGFBP2 protein is predicted to form a disordered random coil rather than a helical-turn-helix structure, unable to adopt a stable conformation. The proband and the two sons had 5-10-fold higher numbers of circulating cytotoxic CD4 + T cells and plasmablasts compared to matched controls. The three members also share a homozygous missense common variant in FGFBP2 found in heterozygous form in ~40% of the population. This common variant was found in 73% of an independent, well characterized IgG4-RD cohort, showing enrichment in idiopathic IgG4-RD.ConclusionsThe presence of a shared deleterious variant and homozygous common variant in FGFBP2 in the proband and sons strongly implicates this cytotoxic T cell product in the pathophysiology of IgG4-RD. The high prevalence of a common FGFBP2 variant in sporadic IgG4-RD supports the likelihood of participation in disease.

Published
2019

23. Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2-/- Mice.

Author

Yoo, Taesun, Jung, Hwajin, Lee, Dongwon, Lee, Eunee, Lee, Seungjoon, Kim, Jihye, Kim, Ryunhee, Kwon, Yonghan, Kim, Woohyun, Kim, Hyosang, Duffney, Lara, Kim, Doyoun, Mah, Won, Won, Hyejung, Mo, Seojung, Kim, Jin, Lim, Chae-Seok, Kaang, Bong-Kiun, Boeckers, Tobias, Chung, Yeonseung, Kim, Hyun, Jiang, Yong-Hui, Kim, Eunjoon, Chung, Changuk, Ha, Seungmin, Kang, Hyojin, Lee, Jiseok, Um, Seung, Yan, Haidun, and Yoo, Ye-Eun

Subjects
Autism, Memantine, NMDA receptor, SHANK2, Synapse, Treatment, Age Factors, Animals, Autism Spectrum Disorder, Behavior, Animal, Disease Models, Animal, Excitatory Amino Acid Antagonists, Memantine, Mice, Mice, Inbred C57BL, Mice, Knockout, Nerve Tissue Proteins, Receptors, N-Methyl-D-Aspartate, Social Behavior
Abstract

BACKGROUND: Autism spectrum disorder involves neurodevelopmental dysregulations that lead to visible symptoms at early stages of life. Many autism spectrum disorder-related mechanisms suggested by animal studies are supported by demonstrated improvement in autistic-like phenotypes in adult animals following experimental reversal of dysregulated mechanisms. However, whether such mechanisms also act at earlier stages to cause autistic-like phenotypes is unclear. METHODS: We used Shank2-/- mice carrying a mutation identified in human autism spectrum disorder (exons 6 and 7 deletion) and combined electrophysiological and behavioral analyses to see whether early pathophysiology at pup stages is different from late pathophysiology at juvenile and adult stages and whether correcting early pathophysiology can normalize late pathophysiology and abnormal behaviors in juvenile and adult mice. RESULTS: Early correction of a dysregulated mechanism in young mice prevents manifestation of autistic-like social behaviors in adult mice. Shank2-/- mice, known to display N-methyl-D-aspartate receptor (NMDAR) hypofunction and autistic-like behaviors at postweaning stages after postnatal day 21 (P21), show the opposite synaptic phenotype-NMDAR hyperfunction-at an earlier preweaning stage (∼P14). Moreover, this NMDAR hyperfunction at P14 rapidly shifts to NMDAR hypofunction after weaning (∼P24). Chronic suppression of the early NMDAR hyperfunction by the NMDAR antagonist memantine (P7-P21) prevents NMDAR hypofunction and autistic-like social behaviors from manifesting at later stages (∼P28 and P56). CONCLUSIONS: Early NMDAR hyperfunction leads to late NMDAR hypofunction and autistic-like social behaviors in Shank2-/- mice, and early correction of NMDAR dysfunction has the long-lasting effect of preventing autistic-like social behaviors from developing at later stages.

Published
2019

24. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Author

Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K-G, Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C, and Goldstein, David B

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Clinical Research, Stem Cell Research, Prevention, Human Genome, Stem Cell Research - Embryonic - Non-Human, Good Health and Well Being, Child, Developmental Disabilities, Exome, Female, Genetic Predisposition to Disease, Genomics, Humans, Male, Phenotype, Sequence Analysis, DNA, Exome Sequencing, Whole Genome Sequencing, Exome sequencing, Genome sequencing, Undiagnosed diseases, Rare diseases, Phenotyping, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity
Abstract

PurposeSixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving 10-15% of the ES negatives, further approaches are necessary to maximize diagnoses in these individuals.MethodsIn 38 ES negative patients an individualized genomic-phenotypic approach was employed utilizing (1) phenotyping; (2) reanalyses of FASTQ files, with innovative bioinformatics; (3) targeted molecular testing; (4) genome sequencing (GS); and (5) conferring of clinical diagnoses when pathognomonic clinical findings occurred.ResultsCertain and highly likely diagnoses were made in 18/38 (47%) individuals, including identifying two new developmental disorders. The majority of diagnoses (>70%) were due to our bioinformatics, phenotyping, and targeted testing identifying variants that were undetected or not prioritized on prior ES. GS diagnosed 3/18 individuals with structural variants not amenable to ES. Additionally, tentative diagnoses were made in 3 (8%), and in 5 individuals (13%) candidate genes were identified. Overall, diagnoses/potential leads were identified in 26/38 (68%).ConclusionsOur comprehensive approach to ES negatives maximizes the ES and clinical data for both diagnoses and candidate gene identification, without GS in the majority. This iterative approach is cost-effective and is pertinent to the current conundrum of ES negatives.

Published
2019

25. Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

Author

Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui, Zou Chao-Chun, PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, and Zhejiang Expert Group for PWS

Subjects
Prader-Willi syndrome, Diagnosis, Management, Guidelines, Child, China, Medicine
Abstract

Abstract Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficulties in the early infancy, followed by overeating in late infancy or early childhood and progressive development of morbid obesity unless the diet is externally controlled. Compared to Western PWS patients, Chinese patients have a higher ratio of deletion type. Although some rare disease networks, including PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS, were established recently, misdiagnosis, missed diagnosis and inappropriate intervention were usually noted in China. Therefore, there is an urgent need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy. Our purpose is to evaluate the current literature and evidences on diagnosis and management of PWS in order to provide evidence-based guidelines for this disease, specially from China.

Published
2022
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26. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

Author

Tan, Queenie, Cope, Heidi, Spillmann, Rebecca, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie, Rothman, Jennifer, Butler, Megan, Frush, Donald, Lachman, Ralph, Lee, Brendan, Bacino, Carlos, Bonner, Melanie, McCall, Chad, Pendse, Avani, Walley, Nicole, Shashi, Vandana, and Pena, Loren

Subjects
congenital thrombocytopenia, exocrine pancreatic insufficiency, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Adolescent, Bone Marrow Diseases, Exocrine Pancreatic Insufficiency, Female, GTP Phosphohydrolases, Genetic Variation, Humans, Lipomatosis, Mutation, Osteochondrodysplasias, Peptide Elongation Factors, Phenotype, Proteins, Ribonucleoprotein, U5 Small Nuclear, Shwachman-Diamond Syndrome, Exome Sequencing
Abstract

Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little is known about the phenotypes associated with pathogenic variants in the EFL1 gene, but the initial indication was that phenotypes may be more severe, when compared with SDS. We report a pediatric patient who presented with a metaphyseal dysplasia and was found to have biallelic variants in EFL1 on reanalysis of trio whole-exome sequencing data. The variant had not been initially reported because of the research laboratorys focus on de novo variants. Subsequent phenotyping revealed variability in her manifestations. Although her metaphyseal abnormalities were more severe than in the original reported cohort with EFL1 variants, the bone marrow abnormalities were generally mild, and there was equivocal evidence for pancreatic insufficiency. Despite the limited number of reported patients, variants in EFL1 appear to cause a broader spectrum of symptoms that overlap with those seen in SDS. Our report adds to the evidence of EFL1 being associated with an SDS-like phenotype and provides information adding to our understanding of the phenotypic variability of this disorder. Our report also highlights the value of exome data reanalysis when a diagnosis is not initially apparent.

Published
2018

27. Vitamin C epigenetically controls osteogenesis and bone mineralization

Author

Thaler, Roman, Khani, Farzaneh, Sturmlechner, Ines, Dehghani, Sharareh S., Denbeigh, Janet M., Zhou, Xianhu, Pichurin, Oksana, Dudakovic, Amel, Jerez, Sofia S., Zhong, Jian, Lee, Jeong-Heon, Natarajan, Ramesh, Kalajzic, Ivo, Jiang, Yong-hui, Deyle, David R., Paschalis, Eleftherios P., Misof, Barbara M., Ordog, Tamas, and van Wijnen, Andre J.

Published
2022
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28. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Author

Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward, El-Dairi, Mays, Bellet, Jane, Keels, Martha, Jasien, Joan, Kranz, Peter, Noel, Richard, Nagaraj, Shashi, Lark, Robert, Wechsler, Daniel, Del Gaudio, Daniela, Leung, Marco, Hendon, Laura, Parker, Collette, Jones, Kelly, Goldstein, David, and Shashi, Vandana

Subjects
Alleles, Biopsy, Child, Child, Preschool, Exome, Female, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genotype, Humans, Infant, Molecular Diagnostic Techniques, Phenotype, Polymorphism, Single Nucleotide, Rare Diseases, Exome Sequencing, Whole Genome Sequencing
Abstract

PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses.

Published
2018

32. When lungs and weights tell different stories

Author

Godse, Sanjiv, primary, Brumer, Eliaz, additional, Kizilirmak, Tuba Kockar, additional, Canapari, Craig, additional, Silva, Cicero, additional, Morotti, Raffaella, additional, Jiang, Yong‐Hui, additional, Jeffries, Lauren, additional, Chen, Laura, additional, and Panacherry, Sherin, additional

Published
2024
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33. Transcriptome Analysis Identifies An ASD-Like Phenotype In Oligodendrocytes And Microglia From C58/J Amygdala That Is Dependent On Sex and Sociability

Author

Dalton, George D., primary, Siecinski, Stephen K., additional, Nikolova, Viktoriya D., additional, Cofer, Gary P., additional, Hornburg, Kathryn, additional, Qi, Yi, additional, Johnson, G. Allan, additional, Jiang, Yong-Hui, additional, Moy, Sheryl S., additional, and Gregory, Simon G., additional

Published
2024
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37. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Author

Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R, Stray-Pedersen, Asbjorg, Busk, Oyvind L, Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D, Scaglia, Fernando, Rosenfeld, Jill A, Tarpinian, Jennifer, Skraban, Cara M, Deardorff, Matthew A, Friedman, Jeremy N, Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A, Kranz, Peter G, Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F, Lee, Hane, Dorrani, Naghmeh, Goldstein, David B, Xiao, Rui, Yang, Yaping, Posey, Jennifer E, Martinez-Agosto, Julian A, Lupski, James R, Wangler, Michael F, Shashi, Vandana, Grody, Wayne W, Strom, Samuel P, Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Mullegama, Sureni, Kang, Sung-Hae, Alejandro, Mercedes E, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Clark, Gary D, Craigen, William J, Dhar, Shweta U, Emrick, Lisa T, Graham, Brett H, Hanchard, Neil A, Jain, Mahim, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Mashid, Azamian S, Moretti, Paolo M, Nicholas, Sarah K, Orange, Jordan S, Potocki, Lorraine, Scott, Daryl A, Tran, Alyssa A, Bellen, Hugo J, Yamamoto, Shinya, Eng, Christine M, Muzny, Donna M, Ward, Patricia A, Gropman, Andrea L, Jiang, Yong-hui, Pena, Loren DM, Spillmann, Rebecca C, Sullivan, Jennifer A, Walley, Nicole M, Beggs, Alan H, Briere, Lauren C, Cooper, Cynthia M, Donnell-Fink, Laurel A, Krieg, Elizabeth L, Krier, Joel B, and Lincoln, Sharyn A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Pediatric, Brain Disorders, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microcephaly, Mutation, Missense, Neoplasm Proteins, Pedigree, Phenotype, Repressor Proteins, Spasms, Infantile, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, NACC1, cataracts, developmental/intellectual disabilities, epilepsy, irritability, microcephaly, stereotypy, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10-14). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1.

Published
2017

38. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Author

Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Reijnders, Margot R.F., Demirdas, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Jr., Tezcan, Kamer, Schaefer, G.B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gécz, Jozef, and Jolly, Lachlan A.

Published
2020
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40. Critical windows of greenness exposure during preconception and gestational periods in association with birthweight outcomes

Author

Yang, Zhenchun, primary, Liao, Jiawen, additional, Zhang, Yi, additional, Lin, Yan, additional, Ge, Yihui, additional, Chen, Wu, additional, Qiu, Chenyu, additional, Berhane, Kiros, additional, Bai, Zhipeng, additional, Han, Bin, additional, Xu, Jia, additional, Jiang, Yong Hui, additional, Gilliland, Frank D, additional, Yan, Weili, additional, Chen, Zhanghua, additional, Huang, Guoying, additional, and Zhang, Junfeng, additional

Published
2023
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44. Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years

Author

Zhou, Hao, Xu, Xiu, Yan, Weili, Zou, Xiaobing, Wu, Lijie, Luo, Xuerong, Li, Tingyu, Huang, Yi, Guan, Hongyan, Chen, Xiang, Mao, Meng, Xia, Kun, Zhang, Lan, Li, Erzhen, Ge, Xiaoling, Zhang, Lili, Li, Chunpei, Zhang, Xudong, Zhou, Yuanfeng, Ding, Ding, Shih, Andy, Fombonne, Eric, Zheng, Yi, Han, Jisheng, Sun, Zhongsheng, Jiang, Yong-hui, and Wang, Yi

Published
2020
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47. Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2−/− Mice

Author

Chung, Changuk, Ha, Seungmin, Kang, Hyojin, Lee, Jiseok, Um, Seung Min, Yan, Haidun, Yoo, Ye-Eun, Yoo, Taesun, Jung, Hwajin, Lee, Dongwon, Lee, Eunee, Lee, Seungjoon, Kim, Jihye, Kim, Ryunhee, Kwon, Yonghan, Kim, Woohyun, Kim, Hyosang, Duffney, Lara, Kim, Doyoun, Mah, Won, Won, Hyejung, Mo, Seojung, Kim, Jin Yong, Lim, Chae-Seok, Kaang, Bong-Kiun, Boeckers, Tobias M., Chung, Yeonseung, Kim, Hyun, Jiang, Yong-hui, and Kim, Eunjoon

Published
2019
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48. Therapeutic approaches for shankopathies

Author

Wang, Xiaoming, Bey, Alexandra L, Chung, Leeyup, Krystal, Andrew D, and Jiang, Yong‐Hui

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Mental Health, Genetics, Autism, 2.1 Biological and endogenous factors, Aetiology, Animals, Child Development Disorders, Pervasive, Humans, Mutation, Nerve Tissue Proteins, Synaptic Transmission, Transcranial Magnetic Stimulation, autism spectrum disorders, mouse model, SHANK family protein, synapses, brain stimulation, Neurosciences, Medical Physiology, Cognitive Sciences, Neurology & Neurosurgery
Abstract

Despite recent advances in understanding the molecular mechanisms of autism spectrum disorders (ASD), the current treatments for these disorders are mostly focused on behavioral and educational approaches. The considerable clinical and molecular heterogeneity of ASD present a significant challenge to the development of an effective treatment targeting underlying molecular defects. Deficiency of SHANK family genes causing ASD represent an exciting opportunity for developing molecular therapies because of strong genetic evidence for SHANK as causative genes in ASD and the availability of a panel of Shank mutant mouse models. In this article, we review the literature suggesting the potential for developing therapies based on molecular characteristics and discuss several exciting themes that are emerging from studying Shank mutant mice at the molecular level and in terms of synaptic function.

Published
2014

49. CDIO‐CT collaborative strategy for solving complex STEM problems in system modeling and simulation: An illustration of solving the period of mathematical pendulum.

Author

Zhang, Hong‐Yan, Zhou, Yu, Li, Yu‐Tao, Li, Fu‐Yun, and Jiang, Yong‐Hui

Subjects
SIMULATION methods & models, PENDULUMS, ELLIPTIC integrals, RESEARCH & development projects, COLLEGE teachers, PHILOSOPHY of education
Abstract

The problem‐project‐oriented STEM education plays a significant role in training students' ability of innovation. Although the conceive‐design‐implement‐operate (CDIO) approach and computational thinking (CT) are hot topics in recent decades, there are still two deficiencies: the CDIO approach and CT are discussed separately and a general framework of coping with complex STEM problems in system modeling and simulation is missing. In this paper, a collaborative strategy based on the CDIO and CT is proposed for solving complex STEM problems in system modeling and simulation with a general framework, in which the CDIO is about "how to do," CT is about "how to think," and the project means "what to do." As an illustration, the problem of solving the period of mathematical pendulum is discussed in detail. The most challenging task involved in the problem is to compute the complete elliptic integral of the first kind (CEI‐1). In the philosophy of STEM education, all problems have more than one solution. For computing the CEI‐1, four methods are discussed with a top‐down strategy, which includes the infinite series method, arithmetic‐geometric mean method, Gauss–Chebyshev method, and Gauss‐Legendre method. The algorithms involved can be utilized for R & D projects of interest and be reused according to the requirements encountered. The general framework for solving complex STEM problems in system modeling and simulation is worth recommending to college students and instructors. [ABSTRACT FROM AUTHOR]

Published
2024
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