Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

被引：16

作者：

Alvarez-Mora, Maria Isabel ^{[1
]}

Corominas, Jordi ^{[2
]}

Gilissen, Christian ^{[2
]}

Sanchez, Aurora ^{[1
,3
,4
]}

Madrigal, Irene ^{[1
,3
,4
]}

Rodriguez-Revenga, Laia ^{[1
,3
,4
]}

机构：

[1] Hosp Clin Barcelona, Dept Biochem & Mol Genet, Barcelona 08036, Spain

[2] Radboud UMC, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands

[3] Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona 08036, Spain

[4] CIBER Rare Dis CIBERER, Barcelona 08036, Spain

来源：

GENES | 2021年 / 12卷 / 04期

关键词：

TRAPPC9; whole genome sequencing; neurodevelopmental disorders; neuropsychiatric disorders; compound heterozygous mutations; missense mutation; structural variants; NEURODEVELOPMENTAL DISORDERS; AUTISM; RISK;

D O I：

10.3390/genes12040557

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology remains elusive in close to 50% of cases, even in those families with multiple affected individuals, strongly hinting at a genetic cause. Here we present a case report of two siblings affected with severe ID and other comorbidities, who embarked on a genetic testing odyssey until diagnosis was reached by using whole genome sequencing (WGS). WGS identified a maternally inherited novel missense variant (NM_031466.7:c.1037G > A; p.Gly346Glu) and a paternally inherited 90 kb intragenic deletion in TRAPPC9 gene. This report demonstrates the clinical utility of WGS in patients who remain undiagnosed after whole exome sequencing.

引用

页数：8

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