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4. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Author

Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez-Lara, Pedro A, Campo, Miguel Del, Jones, Marilyn C, Abdul-Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary-Alice, Allain, Dawn C, Amlie-Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin-To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah K, Knight Johnson, Amy E, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell-Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, and Falk, Marni J

Subjects
Steiner syndrome, Clinical Sciences, Hypertrichosis, Black People, White People, Rare Diseases, Loss of Function Mutation, Clinical Research, Intellectual Disability, Wiedemann&#8208, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, syndromic intellectual disability, Aetiology, syndromic short stature, Growth Disorders, Genetic Association Studies, Retrospective Studies, Pediatric, Wiedemann-Steiner syndrome, Histone-Lysine N-Methyltransferase, KMT2A, Failure to Thrive, Brain Disorders, Congenital Structural Anomalies, MLL1, Constipation, Myeloid-Lymphoid Leukemia Protein
Abstract

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.

Published
2021

5. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Author

Sheppard, Sarah E., primary, Campbell, Ian M., additional, Harr, Margaret H., additional, Gold, Nina, additional, Li, Dong, additional, Bjornsson, Hans T., additional, Cohen, Julie S., additional, Fahrner, Jill A., additional, Fatemi, Ali, additional, Harris, Jacqueline R., additional, Nowak, Catherine, additional, Stevens, Cathy A., additional, Grand, Katheryn, additional, Au, Margaret, additional, Graham, John M., additional, Sanchez‐Lara, Pedro A., additional, Campo, Miguel Del, additional, Jones, Marilyn C., additional, Abdul‐Rahman, Omar, additional, Alkuraya, Fowzan S., additional, Bassetti, Jennifer A., additional, Bergstrom, Katherine, additional, Bhoj, Elizabeth, additional, Dugan, Sarah, additional, Kaplan, Julie D., additional, Derar, Nada, additional, Gripp, Karen W., additional, Hauser, Natalie, additional, Innes, A. Micheil, additional, Keena, Beth, additional, Kodra, Neslida, additional, Miller, Rebecca, additional, Nelson, Beverly, additional, Nowaczyk, Malgorzata J., additional, Rahbeeni, Zuhair, additional, Ben‐Shachar, Shay, additional, Shieh, Joseph T., additional, Slavotinek, Anne, additional, Sobering, Andrew K., additional, Abbott, Mary‐Alice, additional, Allain, Dawn C., additional, Amlie‐Wolf, Louise, additional, Au, Ping Yee Billie, additional, Bedoukian, Emma, additional, Beek, Geoffrey, additional, Barry, James, additional, Berg, Janet, additional, Bernstein, Jonathan A., additional, Cytrynbaum, Cheryl, additional, Chung, Brian Hon‐Yin, additional, Donoghue, Sarah, additional, Dorrani, Naghmeh, additional, Eaton, Alison, additional, Flores‐Daboub, Josue A., additional, Dubbs, Holly, additional, Felix, Carolyn A., additional, Fong, Chin‐To, additional, Fung, Jasmine Lee Fong, additional, Gangaram, Balram, additional, Goldstein, Amy, additional, Greenberg, Rotem, additional, Ha, Thoa K., additional, Hersh, Joseph, additional, Izumi, Kosuke, additional, Kallish, Staci, additional, Kravets, Elijah, additional, Kwok, Pui‐Yan, additional, Jobling, Rebekah K., additional, Knight Johnson, Amy E., additional, Kushner, Jessica, additional, Lee, Bo Hoon, additional, Levin, Brooke, additional, Lindstrom, Kristin, additional, Manickam, Kandamurugu, additional, Mardach, Rebecca, additional, McCormick, Elizabeth, additional, McLeod, D. Ross, additional, Mentch, Frank D., additional, Minks, Kelly, additional, Muraresku, Colleen, additional, Nelson, Stanley F., additional, Porazzi, Patrizia, additional, Pichurin, Pavel N., additional, Powell‐Hamilton, Nina N., additional, Powis, Zoe, additional, Ritter, Alyssa, additional, Rogers, Caleb, additional, Rohena, Luis, additional, Ronspies, Carey, additional, Schroeder, Audrey, additional, Stark, Zornitza, additional, Starr, Lois, additional, Stoler, Joan, additional, Suwannarat, Pim, additional, Velinov, Milen, additional, Weksberg, Rosanna, additional, Wilnai, Yael, additional, Zadeh, Neda, additional, Zand, Dina J., additional, Falk, Marni J., additional, Hakonarson, Hakon, additional, Zackai, Elaine H., additional, and Quintero‐Rivera, Fabiola, additional

Published
2021
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7. Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Author

De Franco, Elisa, primary, Saint‐Martin, Cécile, additional, Brusgaard, Klaus, additional, Knight Johnson, Amy E., additional, Aguilar‐Bryan, Lydia, additional, Bowman, Pamela, additional, Arnoux, Jean‐Baptiste, additional, Larsen, Annette Rønholt, additional, Sanyoura, May, additional, Greeley, Siri Atma W., additional, Calzada‐León, Raúl, additional, Harman, Bradley, additional, Houghton, Jayne A. L., additional, Nishimura‐Meguro, Elisa, additional, Laver, Thomas W., additional, Ellard, Sian, additional, Gaudio, Daniela, additional, Christesen, Henrik Thybo, additional, Bellanné‐Chantelot, Christine, additional, and Flanagan, Sarah E., additional

Published
2020
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8. Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

Author

De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, May, Sanyoura, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, and Flanagan, Sarah E.

Abstract

The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP‐sensitive potassium channel, a key component of the glucose‐stimulated insulin secretion pathway. Mutations in the two genes cause dysregulated insulin secretion; inactivating mutations cause an oversecretion of insulin, leading to congenital hyperinsulinism, whereas activating mutations cause the opposing phenotype, diabetes. This review focuses on variants identified in ABCC8 and KCNJ11, the phenotypic spectrum and the treatment implications for individuals with pathogenic variants. [ABSTRACT FROM AUTHOR]

Published
2020
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9. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Author

Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar‐Heyming, Rebecca, McFaddin, Andrew S., Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., and Seppälä, Eija H.

Abstract

ClinVar provides open access to variant classifications shared from many clinical laboratories. Although most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on a large scale, clinical laboratories were encouraged to reassess outlier classifications of variants with medically significant differences (MSDs). Outliers were identified by first comparing ClinVar submissions from 41 clinical laboratories to detect variants with MSDs between the laboratories (650 variants). Next, MSDs were filtered for variants with ≥3 classifications (244 variants), of which 87.6% (213 variants) had a majority consensus in ClinVar, thus allowing for identification of outlier classifications in need of reassessment. Laboratories with outlier classifications were sent a custom report and encouraged to reassess variants. Results were returned for 204 (96%) variants, of which 62.3% (127) were resolved. Of those 127, 64.6% (82) were resolved due to reassessment prompted by this study and 35.4% (45) resolved by a previously completed reassessment. This study demonstrates a scalable approach to classification resolution and capitalizes on the value of data sharing within ClinVar. These activities will help the community move toward more consistent variant classifications, which will improve the care of patients with, or at risk for, genetic disorders. To facilitate resolution of sequence variant classification differences in ClinVar, clinical laboratories were sent a custom report of outlier interpretations and encouraged to reassess variants. Among 650 variants with medically significant differences between laboratories, 31% (204 variants) had an outlier classification, of which 62.3% (127 variants) were reclassified and resolved upon outlier laboratory reassessment alone. This study demonstrates a scalable approach to tackle a portion of classification resolution and capitalizes on the value of data sharing within ClinVar. [ABSTRACT FROM AUTHOR]

Published
2018
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