A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV

IF 1 4区 生物学 Q4 GENETICS & HEREDITY Annals of Human Genetics Pub Date : 2022-08-30 DOI:10.1111/ahg.12462
Shabir Hussain, Shoaib Nawaz, Hammal Khan, Anushree Acharya, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
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引用次数: 1

Abstract

Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures. Exome sequencing analysis revealed a novel homozygous splice site variant c.257-1G>A in TCTN3 that segregated with disease. This homozygous splice site variant in TCTN3 is most likely the underlying cause of the atypical form of OFD4 observed in this family. Our results contribute to the phenotypic spectrum of TCTN3 associated ciliopathies and will facilitate better clinical diagnosis.

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TCTN3剪接位点变异是一种不典型的口面指综合征IV型的基础
口指综合征(orofacio指syndrome, OFD)在临床上是异质性的,以口腔、面部特征、手指和中枢神经系统的异常为特征。文献中描述了至少18种亚型。OFD是由几种表型重叠的基因变异引起的。我们研究了一个近亲巴基斯坦家庭,有两个患有非典型形式OFD4 (OFD4)的兄弟姐妹。除了OFD4的典型特征包括肢体缺陷和生长迟缓外,兄弟姐妹还表现出罕见的舟头畸形和癫痫发作。外显子组测序分析显示,TCTN3中存在一种新的纯合剪接位点变异c.257-1G> a,该变异与疾病分离。TCTN3的这种纯合剪接位点变异很可能是该家族中观察到的非典型形式OFD4的根本原因。我们的研究结果有助于TCTN3相关纤毛病的表型谱,并将有助于更好的临床诊断。
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来源期刊
Annals of Human Genetics
Annals of Human Genetics 生物-遗传学
CiteScore
4.20
自引率
0.00%
发文量
34
审稿时长
3 months
期刊介绍: Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.
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