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1
Neurodevelopmental Disorders and the Mystery of the Genes Involved: A Case Report of a BICRA Heterozygous Mutation Identified in Autism Spectrum Disorder.神经发育障碍与相关基因之谜：一例在自闭症谱系障碍中鉴定出的BICRA杂合突变病例报告。
Cureus. 2024 Aug 8;16(8):e66442. doi: 10.7759/cureus.66442. eCollection 2024 Aug.
2
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.BICRA，一个 SWI/SNF 复合物成员，与人类和模式生物的 BAF 疾病相关表型相关联。
Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23.
3
Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12.鉴定一种新型 BICRA 变异导致新描述的 Coffin-Siris 综合征 12 型。
Brain Dev. 2023 Mar;45(3):185-190. doi: 10.1016/j.braindev.2022.11.003. Epub 2022 Nov 24.
4
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.扩展 BAF 相关疾病谱：SMARCC2 中的新生变异导致伴有智力残疾和发育迟缓的综合征。
Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.
5
A de novo variant of BICRA results in Coffin-Siris syndrome 12.一个 BICRA 的新生变异导致 Coffin-Siris 综合征 12 型。
Mol Genet Genomic Med. 2023 Nov;11(11):e2250. doi: 10.1002/mgg3.2250. Epub 2023 Jul 24.
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Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.采用基于三亲的全外显子组测序对中国队列中不明原因神经发育迟缓及神经发育合并症患儿进行表型和遗传学分析。
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Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous Variant.一名患有新发杂合变异的患者出现伴有癫痫、斜视和自伤行为的复杂自闭症谱系障碍。
Genes (Basel). 2022 Mar 7;13(3):470. doi: 10.3390/genes13030470.
8
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.对连续就诊的自闭症谱系障碍或学习障碍患者进行染色体微阵列分析，以提供遗传服务。
Gene. 2014 Feb 1;535(1):70-8. doi: 10.1016/j.gene.2013.10.020. Epub 2013 Nov 2.
9
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.PLXNA2 和 LRRC40 作为自闭症谱系障碍的候选基因。
Autism Res. 2021 Jun;14(6):1088-1100. doi: 10.1002/aur.2502. Epub 2021 Mar 22.
10
MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case Report.与自闭症谱系障碍相关的MED13基因突变：一例报告
Cureus. 2024 May 8;16(5):e59904. doi: 10.7759/cureus.59904. eCollection 2024 May.

本文引用的文献

1
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.BICRA，一个 SWI/SNF 复合物成员，与人类和模式生物的 BAF 疾病相关表型相关联。
Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23.
2
Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes.神经胶质瘤肿瘤抑制候选区域基因 1（GLTSCR1）及其同源物 GLTSCR1 样形式的 SWI/SNF 染色质重塑亚基复合物。
J Biol Chem. 2018 Mar 16;293(11):3892-3903. doi: 10.1074/jbc.RA117.001065. Epub 2018 Jan 26.
3
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.神经发育与疾病中的染色质重塑BAF（SWI/SNF）复合物
Front Mol Neurosci. 2017 Aug 3;10:243. doi: 10.3389/fnmol.2017.00243. eCollection 2017.
4
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.临床中的全外显子组测序：从临床医生视角看连续六个病例的经验教训
Mol Syndromol. 2015 Feb;6(1):23-31. doi: 10.1159/000371598. Epub 2015 Feb 3.
5
From neural development to cognition: unexpected roles for chromatin.从神经发育到认知：染色质的意外作用。
Nat Rev Genet. 2013 May;14(5):347-59. doi: 10.1038/nrg3413. Epub 2013 Apr 9.
6
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.临床遗传学评估在识别自闭症谱系障碍病因中的应用：2013 年指南修订版。
Genet Med. 2013 May;15(5):399-407. doi: 10.1038/gim.2013.32. Epub 2013 Mar 21.
7
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.SWI/SNF 染色质重塑复合物基因 ARID1B 的突变导致 Coffin-Siris 综合征。
Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217.
8
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.影响 SWI/SNF 复合物组成部分的突变会导致 Coffin-Siris 综合征。
Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.
9
Genetic heritability and shared environmental factors among twin pairs with autism.自闭症双胞胎对中的遗传遗传性和共同环境因素。
Arch Gen Psychiatry. 2011 Nov;68(11):1095-102. doi: 10.1001/archgenpsychiatry.2011.76. Epub 2011 Jul 4.
10
Phenotypic variability and genetic susceptibility to genomic disorders.基因组疾病的表型变异性和遗传易感性。
Hum Mol Genet. 2010 Oct 15;19(R2):R176-87. doi: 10.1093/hmg/ddq366. Epub 2010 Aug 31.

神经发育障碍与相关基因之谜：一例在自闭症谱系障碍中鉴定出的BICRA杂合突变病例报告。

Neurodevelopmental Disorders and the Mystery of the Genes Involved: A Case Report of a BICRA Heterozygous Mutation Identified in Autism Spectrum Disorder.

作者信息

Gratacós Arenas María A, Soler Portilla Carolina, Carlo Simón, Arciniegas Norma J

机构信息

Pediatrics, Centro Medico Episcopal San Lucas, Ponce, PRI.

Pediatrics, Ponce Health Sciences University, Ponce, PRI.

出版信息

Cureus. 2024 Aug 8;16(8):e66442. doi: 10.7759/cureus.66442. eCollection 2024 Aug.

DOI:10.7759/cureus.66442
PMID:39246911
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11380628/
Abstract

Pathogenic variants in the BRD4 interacting chromatin remodeling complex associated protein (BICRA) are linked to BICRA-related neurodevelopmental disorders. These disorders are characterized by developmental delay, intellectual disability, and dysmorphic facial features, along with behavioral abnormalities, poor growth, vision abnormalities, and feeding difficulties. We present the case of a three-year-old male diagnosed with autism spectrum disorder (ASD), developmental speech delay, and epilepsy. Whole exome sequencing with copy number variant (CNV) analysis revealed a heterozygous variant of uncertain significance in the BICRA gene (c.1246G>C, p.Ala416Pro). This case report aims to highlight a gene associated with BICRA-related neurodevelopmental disorders that is rarely described in ASD patients. Further research is crucial to explore the role of chromatin remodeling in the etiology and development of ASD.

摘要

BRD4相互作用染色质重塑复合物相关蛋白（BICRA）中的致病变异与BICRA相关神经发育障碍有关。这些障碍的特征包括发育迟缓、智力残疾、面部畸形特征，以及行为异常、生长发育不良、视力异常和喂养困难。我们报告了一例三岁男性病例，该患儿被诊断患有自闭症谱系障碍（ASD）、发育性语言迟缓及癫痫。全外显子测序及拷贝数变异（CNV）分析显示，BICRA基因存在一个意义未明的杂合变异（c.1246G>C，p.Ala416Pro）。本病例报告旨在强调一个与BICRA相关神经发育障碍相关的基因，该基因在ASD患者中鲜有报道。进一步研究对于探索染色质重塑在ASD病因学及发展过程中的作用至关重要。