A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability

被引：1

作者：

Lang, Steven H. ^{[1
]}

Gallo, Ryan A. ^{[1
]}

Forghani, Irman ^{[1
]}

机构：

[1] Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2022年 / 188卷 / 06期

关键词：

C-terminal cleavage site; EDS arthrochalasia; OI; EDS; osteogenesis imperfecta;

D O I：

10.1002/ajmg.a.62712

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Osteogenesis imperfecta (OI) is a rare connective tissue disorder with clinical and genetic heterogeneity. The cardinal features of OI are bone fragility and low bone mineral density (BMD). Pathogenic variants in COL1A1 and COL1A2 genes, which encode the pro alpha-1(I) and pro alpha-2(I) chains of Type 1 collagen, are the most common causes of OI. Mutations disrupting the carboxy-terminal propeptide cleavage site of the pro alpha-1(I) and pro alpha-2(I) chains have recently been reported as rare causes of OI with paradoxically normal to high BMD. This report describes a father and daughter with OI who are heterozygous for a novel likely pathogenic variant at the carboxy-terminal propeptide cleavage site of COL1A1 (NM_000088.4): c.3656A>G; (p.Asp1219Gly). We describe their intrafamilial phenotypic variability and overlapping features with other COL1A1-related disorders.

引用

页码：1885 / 1889

页数：5

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