Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12

被引：1

作者：

Asadauskaite, Greta ^{[1
]}

Morkuniene, Ausra ^{[2
]}

Utkus, Algirdas ^{[2
]}

Burnyte, Birute ^{[2
]}

机构：

[1] Vilnius Univ, Fac Med, Vilnius, Lithuania

[2] Vilnius Univ, Inst Biomed Sci, Fac Med, Vilnius, Lithuania

来源：

BRAIN & DEVELOPMENT | 2023年 / 45卷 / 03期

关键词：

BICRA; Coffin-Siris syndrome 12; SSRIDD; Neurodevelopmental disorder; Exome sequencing; SWI/SNF COMPLEX;

D O I：

10.1016/j.braindev.2022.11.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Pathogenic heterozygous variants in BICRA have recently been identified in patients with SWI/SNF-related intel-lectual disability (SSRIDD) - Coffin-Siris syndrome 12. So far, only one article reported SSRIDD associated with pathogenic vari-ants in BICRA.Case presentation: The patient's phenotype include low birth weight, microcephaly, neurodevelopment delay, visual, gastroin-testinal, urinary tract impairment, and craniofacial dysmorphism. Whole exome sequencing revealed a novel pathogenic heterozy-gous variant in exon 6 of BICRA gene c.535C > T (p.(Gln179*)). Sanger sequencing confirmed de novo origin.Conclusion: The clinical findings confirm and supplement the previous study which showed that pathogenic variant in BICRA is commonly characterized by neurodevelopmental, gastrointestinal, and ophthalmologic symptoms, growth retardation, as well as craniofacial dysmorphism.(c) 2022 Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology. All rights reserved.

引用

页码：185 / 190

页数：6

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