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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

ABSTRACT: Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The application of whole-exome sequencing to disorders apparently segregating as Mendelian traits has proven to be an effective approach to disease gene identification for conditions with unknown molecular etiology. We identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. Interestingly, the identified variant seems to have arisen as a founder mutation in the Puerto Rican population.

SUBMITTER: Gonzaga-Jauregui C

PROVIDER: S-EPMC4326704 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature

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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

Gonzaga-Jauregui Claudia C Gamble Candace N CN Yuan Bo B Penney Samantha S Jhangiani Shalini S Muzny Donna M DM Gibbs Richard A RA Lupski James R JR Hecht Jacqueline T JT

European journal of human genetics : EJHG 20140702 3

Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The application of whole-exome sequencing to disorders apparently segregating as Mendelian traits has proven to be an effective approach to disease gene identification for conditions with unknown molecular etiology. We identified a homozygous missense variant p.(G ...[more]

PMID: 24986830

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