RESUMO

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.

Assuntos

Colágenos Fibrilares/genética , Efeito Fundador , Mutação , Osteocondrodisplasias/genética , Sequência de Aminoácidos , Pré-Escolar , Hibridização Genômica Comparativa , Exoma , Feminino , Colágenos Fibrilares/química , Seguimentos , Genótipo , Hispânico ou Latino , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Osteocondrodisplasias/diagnóstico , Linhagem , Polimorfismo de Nucleotídeo Único , Prostaglandinas F , Porto Rico/epidemiologia , Alinhamento de Sequência