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3 results on '"Sugayama SM"'

1. New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.

Author

Suzuki KT, Torres LC, Sugayama SM, Aguiar Alves Bda C, Moreira-Filho CA, and Carneiro-Sampaio M

Subjects
Adolescent, Adult, Base Sequence, Brazil, CREB-Binding Protein, Child, Child, Preschool, Chromosomes, Human, Pair 16 genetics, Chromosomes, Human, Pair 2 genetics, Codon, Nonsense, DNA Mutational Analysis, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Male, Mutation, Missense, Polymorphism, Single Nucleotide, Rubinstein-Taybi Syndrome pathology, Sequence Deletion, Translocation, Genetic, Young Adult, Mutation, Rubinstein-Taybi Syndrome genetics
Published
2013
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2. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Author

Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, and Wilkie AO

Subjects
Animals, Base Sequence, DNA Mutational Analysis, Exons genetics, Homeodomain Proteins genetics, Humans, Mice, Molecular Sequence Data, Phenotype, Physical Chromosome Mapping, Skull embryology, Transcription Factors genetics, Craniofacial Abnormalities genetics, DNA-Binding Proteins, Genes, Homeobox genetics, Mutation genetics, Osteogenesis genetics, Proteins genetics, Skull abnormalities
Abstract

Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.

Published
2001
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3. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

Author

Funari, Kim Ca, Antonio M. Lerario, Paulo Ferrez Collett-Solberg, Edoarda Vasco de Albuquerque Albuquerque, Andrew Dauber, Miura Sugayama Sm, Honjo Kawahira Rs, Bruna L Freire, Thais Kataoka Homma, Mirian Yumie Nishi, Jorge Aal, Alexsandra C. Malaquias, Arnhold Ijp, Gabriela A Vasques, and Débora Romeo Bertola

Subjects
Male, Candidate gene, Pediatrics, medicine.medical_specialty, Ubiquitin-Protein Ligases, Kinesins, Cell Cycle Proteins, Dwarfism, Short stature, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Exome Sequencing, Intellectual disability, Humans, Medicine, Abnormalities, Multiple, Prospective Studies, 030212 general & internal medicine, Child, Prospective cohort study, Cyclin-Dependent Kinase Inhibitor p57, Exome sequencing, Adenosine Triphosphatases, biology, business.industry, Tumor Suppressor Proteins, Histone-Lysine N-Methyltransferase, medicine.disease, Prenatal onset, Actins, DNA-Binding Proteins, Repressor Proteins, Cytoskeletal Proteins, KMT2A, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Infant, Small for Gestational Age, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Etiology, Small for gestational age, Transcriptional Elongation Factors, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein
Abstract

Objective To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause. Study design For whole exome sequencing analysis, we selected 44 children born small for gestational age with persistent short stature, and additional features, such as dysmorphic face, major malformation, developmental delay, and/or intellectual disability. Seven patients had negative candidate gene testing based on clinical suspicion and 37 patients had syndromic conditions of unknown etiology. Results Of the 44 patients, 15 (34%) had pathogenic/likely pathogenic variants in genes already associated with growth disturbance: COL2A1 (n = 2), SRCAP (n = 2), AFF4, ACTG1, ANKRD11, BCL11B, BRCA1, CDKN1C, GINS1, INPP5K, KIF11, KMT2A, and POC1A (n = 1 each). Most of the genes found to be deleterious participate in fundamental cellular processes, such as cell replication and DNA repair. Conclusions The rarity and heterogeneity of syndromic short stature make the clinical diagnosis difficult. Whole exome sequencing allows the diagnosis of previously undiagnosed patients with syndromic short stature.

Published
2019

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