Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
Nan Jiang , Wenyuan Xu , Aliaa Abdelhakim , Anastasiya Matveyenko , Matthias Szabolcs , William C. Copeland , Michele Disco , Alejandro Iglesias , Teresa M. Lee , Ali Naini , Mythily Ganapathi
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引用次数: 0

Abstract

TAF1A, a gene encoding a TATA-box binding protein involved in ribosomal RNA synthesis, is a candidate gene for pediatric cardiomyopathy as biallelic TAF1A variants were reported in two families with affected individuals. Here, we report a third family with two siblings who presented with infantile restrictive cardiomyopathy and carried biallelic missense variants in TAF1A (NM_001201536.1:c.1021G>A p.(Gly341Arg) and c.781A>C p.(Thr261Pro)). Additional shared clinical features in the siblings included feeding intolerance, congenital leukoencephalopathy, ventriculomegaly and concern for primary immunodeficiency. The first-born sibling passed away at 6 months of age due to complications of hemophagocytic lymphohistiocytosis (HLH) whereas the second sibling underwent cardiac transplantation at 1 year of age and is currently well. We compare the clinical and molecular features of all the TAF1A associated cardiomyopathy cases. Our study adds evidence for the gene-disease association of TAF1A with autosomal recessive pediatric cardiomyopathy.

两个患有婴儿局限性心肌病的同胞兄弟姐妹中TAF1A的双拷贝潜在致病错义变异。
TAF1A 是一个编码参与核糖体 RNA 合成的 TATA-box 结合蛋白的基因,它是小儿心肌病的候选基因之一,因为有两个受影响的家族报告了 TAF1A 的双链变异。在此,我们报告了第三个家族中的两个兄弟姐妹,他们患有婴儿局限性心肌病,并携带 TAF1A 双重错义变异(NM_001201536.1:c.1021G>A p.(Gly341Arg) 和 c.781A>C p.(Thr261Pro))。这对兄弟姐妹的其他共同临床特征包括喂养不耐受、先天性白质脑病、脑室肥大和原发性免疫缺陷。第一个出生的兄弟姐妹在 6 个月大时因嗜血细胞淋巴组织细胞增多症(HLH)并发症去世,而第二个出生的兄弟姐妹在 1 岁时接受了心脏移植手术,目前状况良好。我们比较了所有 TAF1A 相关心肌病病例的临床和分子特征。我们的研究为 TAF1A 与常染色体隐性遗传小儿心肌病的基因-疾病关联提供了更多证据。
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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