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

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 ED...

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Bibliographic Details
Published inHuman genome variation Vol. 3; no. 1; p. 16030
Main Authors Watanabe, Miki, Nakagawa, Ryuji, Naruto, Takuya, Kohmoto, Tomohiro, Suga, Ken-ichi, Goji, Aya, Kagami, Shoji, Masuda, Kiyoshi, Imoto, Issei
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 15.09.2016
Springer Nature B.V
Nature Publishing Group
Subjects
631/208/2489/144
692/420/2489/1512
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
Online AccessGet full text
ISSN2054-345X
2054-345X
DOI10.1038/hgv.2016.30

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Summary: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].
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These authors contributed equally to this work.
ISSN:2054-345X
2054-345X
DOI:10.1038/hgv.2016.30