Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 282-285, 2022.
Article
em Zh
| WPRIM
| ID: wpr-928402
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS).@*METHODS@#Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members.@*RESULTS@#The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.
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Índice:
WPRIM
Assunto principal:
Linhagem
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Fatores de Transcrição
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Anormalidades Múltiplas
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Deformidades Congênitas da Mão
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China
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Proteínas de Ligação a DNA
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Face
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Deficiência Intelectual
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Micrognatismo
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Pescoço
Tipo de estudo:
Guideline
/
Prognostic_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Article