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一名患有埃勒斯-当洛综合征患者的COL5A2基因发生了一种新的错义突变。

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

作者信息

Watanabe Miki, Nakagawa Ryuji, Naruto Takuya, Kohmoto Tomohiro, Suga Ken-Ichi, Goji Aya, Kagami Shoji, Masuda Kiyoshi, Imoto Issei

机构信息

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.

Department of Pediatrics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.

出版信息

Hum Genome Var. 2016 Sep 15;3:16030. doi: 10.1038/hgv.2016.30. eCollection 2016.

DOI:10.1038/hgv.2016.30
PMID:27656288
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5023785/
Abstract

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].

摘要

埃勒斯-当洛综合征（EDS）是一组遗传性结缔组织疾病，其特征为皮肤过度伸展、关节活动过度和软组织脆弱。为进行分子诊断，对一名临床上疑似患有EDS的9岁男性患者进行了靶向外显子组测序。该患者表现为进行性脊柱后凸侧弯、关节活动过度和皮肤过度伸展且无瘢痕。最终，通过在COL5A2基因[NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg]中鉴定出一种新的单等位基因突变，确诊为经典型EDS。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c239/5023785/882ffdb78bee/hgv201630-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c239/5023785/3df6d2db3329/hgv201630-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c239/5023785/882ffdb78bee/hgv201630-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c239/5023785/3df6d2db3329/hgv201630-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c239/5023785/882ffdb78bee/hgv201630-f2.jpg

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