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Article

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

Journal of medical case reports - 26 Aug 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28841907
DOI: 10.1186/s13256-017-1396-y
PMCID: PMC5574094

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.PMID 28841907Read ↗

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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.Semantic proximity Read ↗

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Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrumSemantic proximity Read ↗

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