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A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita.

ABSTRACT: Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1. This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC.

SUBMITTER: Kusano C

PROVIDER: S-EPMC5332300 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita.

Kusano Chieko C Takagi Masaki M Hori Naoaki N Murotsuki Jun J Nishimura Gen G Hasegawa Tomonobu T

Human genome variation 20170302

Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1. This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC. ...[more]

PMID: 28265456

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A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.

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A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.

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A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

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Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.

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