皮特-霍普金斯综合征--TCF4基因缺失导致严重精神运动发育迟缓

IF 0.5 Q4 GENETICS & HEREDITY
A.R. Ajina Khan , Betsy Baby , S.L. Akhil, Soumya Sundaram, Karthika Ajit Valaparambil
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引用次数: 0

摘要

皮特-霍普金斯综合征(Pitt-Hopkins Syndrome,PTHS)是一种罕见的遗传性疾病,由 TCF4 单倍体缺乏引起,临床特征为发育迟缓、智力障碍(ID)、自闭症谱系障碍、典型面部形态、癫痫发作、高度近视和过度换气-呼吸痉挛。约有四分之三的 PTHS 病例能发现 TCF4 的新致病变体。在其他一些病例中,TCF4所在的染色体18q21.2区域缺失是致病原因,只有染色体微阵列(CMA)才能揭示微缺失。本报告描述了一例因染色体 18q21.2q22.1 缺失(包括 TCF4 基因)而导致 PTHS 表型的 10 岁女孩。患者有严重的发育和认知迟缓、自闭症谱系障碍、运动障碍和行为问题,这些都是典型的 PTHS 表现。了解表型变异对于准确诊断该综合征至关重要,因为如果不进行染色体微阵列分析(CMA)而进行外显子组测序,可能会漏掉TCF4基因缺失。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pitt Hopkins syndrome – TCF4 gene deletion causing severe psychomotor delay

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder due to haploinsufficiency of TCF4 and is clinically characterized by developmental delay, intellectual disability (ID), autism spectrum disorders, typical facial gestalt, seizures, high myopia and hyperventilation-apneic spells. Approximately in three-fourth cases of PTHS, a de novo pathogenic variant in TCF4 is identified. In other instances, deletion of the chromosome region 18q21.2 in which encompasses TCF4 is responsible and only chromosomal microarray (CMA) can reveal the microdeletion. This report describes the case of a 10 year-old girl with PTHS phenotype caused by a chromosome 18q21.2q22.1 deletion that included the TCF4 gene. The patient had severe developmental and cognitive delay, autistic spectrum disorder, motor difficulties, and behavioral issues, all of which are typical with PTHS. Understanding the phenotypic variation is critical for accurate diagnosis in this syndrome, since deletions in TCF4 may be missed if exome sequencing is sought instead of chromosomal microarray analysis (CMA).

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来源期刊
Human Gene
Human Gene Biochemistry, Genetics and Molecular Biology (General), Genetics
CiteScore
1.60
自引率
0.00%
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0
审稿时长
54 days
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