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Journal of Medical Case Reports
Published in: Journal of Medical Case Reports 1/2017

Open Access 01-12-2017 | Case report

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

Authors: Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara

Published in: Journal of Medical Case Reports | Issue 1/2017

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Abstract

Background

Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome.

Case presentation

A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, −2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in COL11A1. At 8 years old, his height was 116.2 cm (−1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the COL2A1 gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp).

Conclusions

In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.
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Metadata
Title
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
Authors
Yousuke Higuchi
Kosei Hasegawa
Miho Yamashita
Hiroyuki Tanaka
Hirokazu Tsukahara
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2017
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-017-1396-y

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