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A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

ABSTRACT: Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diagnosis of a 2-year-old girl who was clinically suspected of having STL with Pierre Robin sequence. We detected a novel heterozygous missense mutation, NM_001854.3:n.4838G>A [NM_001854.3 (COL11A1_v001):c.4520G>A], in COL11A1, resulting in a Gly to Asp substitution at position 1507 [NM_001854.3(COL11A1_i001)] within one of the collagen-like domains of the triple helical region. The same mutation was detected in her 4-year-old brother with cleft palate and high-frequency sensorineural hearing loss.

SUBMITTER: Kohmoto T

PROVIDER: S-EPMC4823386 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

Kohmoto Tomohiro T Tsuji Atsumi A Morita Kei-Ichi K Naruto Takuya T Masuda Kiyoshi K Kashimada Kenichi K Enomoto Keisuke K Morio Tomohiro T Harada Hiroyuki H Imoto Issei I

Human genome variation 20160407

Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diagnosis of a 2-year-old girl who was clinically suspected of having STL with Pierre Robin sequence. We detected a novel heterozygous missense mutation, NM_001854.3:n.4838G>A [NM_001854.3 (COL11A1_v001): ...[more]

PMID: 27081569

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