Dataset Information

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

ABSTRACT: Marshall-Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshall-Stickler syndrome using whole-exome sequencing and identified one COL2A1 mutation and three COL11A1 mutations. Two of the COL11A1 mutations were novel. Our findings expand our knowledge of the COL11A1 mutational spectrum that causes Marshall-Stickler syndrome.

SUBMITTER: Guo L

PROVIDER: S-EPMC5628180 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Guo Long L Elcioglu Nursel H NH Wang Zheng Z Demirkol Yasemin K YK Isguven Pinar P Matsumoto Naomichi N Nishimura Gen G Miyake Noriko N Ikegawa Shiro S

Human genome variation 20171005

Marshall-Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study, we examined four Turkish families with Marshall-Stickler syndrome using whole-exome sequencing and identified one COL2A1 mutation and three COL11A1 mutations. Two of the COL11A1 mutations we ...[more]

PMID: 28983407

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Project description:PurposeOur previous study reported that 5.5% of probands with early-onset high myopia (eoHM) had mutations in COL2A1 or COL11A1. Why were the probands initially considered to have eoHM but not Stickler syndrome (STL)?MethodsProbands and family members with eoHM and mutations in COL2A1 or COL11A1 were followed up and reexamined based on the criteria for STL. Further comprehensive examinations were conducted for patients with eoHM and mutations in COL2A1 or COL11A1 and controls with eoHM without mutations in COL2A1 or COL11A1. We performed comparisons between probands, affected family members with mutations in COL2A1 or COL11A1, and controls with eoHM without mutations in COL2A1 or COL11A1.ResultsTwelve probands (8.91±4.03 years) and 14 affected family members (37.00±11.18 years) with eoHM and mutations in COL2A1 or COL11A1, as well as 30 controls with eoHM but without mutations in COL2A1 or COL11A1, were recruited. Among them, 25.0% of probands and 50.0% of affected family members met the diagnostic criteria for STL after reexamination. Posterior vitreous detachment/foveal hypoplasia (PVD/FH), hypermobility of the elbow joint (HJ), and vitreous opacity were more frequent in patients with eoHM with mutations in COL2A1 or COL11A1 than in the controls (p = 1.40 × 10-5, 3.72 × 10-4, 2.30× 10-3, respectively). HJ was more common in the probands than in the affected family members (11/12 versus 3/14; p = 3.42 × 10-4), suggesting age-dependent manifestation. EoHM presented in all the probands and in 11/14 affected family members, suggesting that it is a more common indicator of STL than the previously described vitreoretinal abnormalities, especially in children. The rate of STL diagnosis could increase from 25.0% to 66.7% for probands and from 50.0% to 92.9% for affected family members if eoHM, PVD/FH, and HJ are added to the diagnostic criteria.ConclusionsIn summary, it is not easy to differentiate STL from eoHM with routine ocular examination in outpatient clinics. Awareness of atypical phenotypes and newly recognized signs may be of help in identifying atypical STL, especially in children at eye clinics.

Dataset Information

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Publications

Novel and recurrent <i>COL11A1</i> and <i>COL2A1</i> mutations in the Marshall-Stickler syndrome spectrum.

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