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Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
Mol Vis. 2013; 19:759-66.MV

Abstract

PURPOSE

Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan. A three-generation Caucasian family variably diagnosed with either syndrome was screened for sequence variants in the COL2A1 and VCAN genes.

METHODS

Genomic DNA samples derived from saliva were collected from all family members (six affected and four unaffected individuals). Complete sequencing of COL2A1 and VCAN was performed on two affected individuals. Direct sequencing of remaining family members was conducted if the discovered variants followed segregation.

RESULTS

A base-pair substitution (c.258C>A) in exon 2 of COL2A1 cosegregated with familial disease status. This known mutation occurs in a highly conserved site that causes a premature stop codon (p.C86X). The mutation was not seen in 1,142 ethnically matched control DNA samples.

CONCLUSIONS

Premature stop codons in COL2A1 exon 2 lead to a Stickler syndrome type I ocular-only phenotype with few or no systemic manifestations. Mutation screening of COL2A1 exon 2 in families with autosomal dominant vitreoretinopathy is important for accurate clinical diagnosis.

Authors+Show Affiliations

Duke Center for Human Genetics, 905 S LaSalle Street, 27705, Durham, North Carolina 27710, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23592912

Citation

Tran-Viet, Khanh-Nhat, et al. "Mutation in Collagen II Alpha 1 Isoforms Delineates Stickler and Wagner Syndrome Phenotypes." Molecular Vision, vol. 19, 2013, pp. 759-66.
Tran-Viet KN, Soler V, Quiette V, et al. Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. Mol Vis. 2013;19:759-66.
Tran-Viet, K. N., Soler, V., Quiette, V., Powell, C., Yanovitch, T., Metlapally, R., Luo, X., Katsanis, N., Nading, E., & Young, T. L. (2013). Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. Molecular Vision, 19, 759-66.
Tran-Viet KN, et al. Mutation in Collagen II Alpha 1 Isoforms Delineates Stickler and Wagner Syndrome Phenotypes. Mol Vis. 2013;19:759-66. PubMed PMID: 23592912.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. AU - Tran-Viet,Khanh-Nhat, AU - Soler,Vincent, AU - Quiette,Valencia, AU - Powell,Caldwell, AU - Yanovitch,Tammy, AU - Metlapally,Ravikanth, AU - Luo,Xiaoyan, AU - Katsanis,Nicholas, AU - Nading,Erica, AU - Young,Terri L, Y1 - 2013/04/05/ PY - 2012/10/16/received PY - 2013/04/03/accepted PY - 2013/4/18/entrez PY - 2013/4/18/pubmed PY - 2013/9/26/medline SP - 759 EP - 66 JF - Molecular vision JO - Mol Vis VL - 19 N2 - PURPOSE: Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan. A three-generation Caucasian family variably diagnosed with either syndrome was screened for sequence variants in the COL2A1 and VCAN genes. METHODS: Genomic DNA samples derived from saliva were collected from all family members (six affected and four unaffected individuals). Complete sequencing of COL2A1 and VCAN was performed on two affected individuals. Direct sequencing of remaining family members was conducted if the discovered variants followed segregation. RESULTS: A base-pair substitution (c.258C>A) in exon 2 of COL2A1 cosegregated with familial disease status. This known mutation occurs in a highly conserved site that causes a premature stop codon (p.C86X). The mutation was not seen in 1,142 ethnically matched control DNA samples. CONCLUSIONS: Premature stop codons in COL2A1 exon 2 lead to a Stickler syndrome type I ocular-only phenotype with few or no systemic manifestations. Mutation screening of COL2A1 exon 2 in families with autosomal dominant vitreoretinopathy is important for accurate clinical diagnosis. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/23592912/Mutation_in_collagen_II_alpha_1_isoforms_delineates_Stickler_and_Wagner_syndrome_phenotypes_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23592912/ DB - PRIME DP - Unbound Medicine ER -