title: 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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Claudia
authors.initials: C
authors.lastname: Gonzaga-Jauregui
authors.affiliation: Department of Pediatrics, UT Health Medical School, Houston, TX, USA.
authors.forename: Candace N
authors.initials: CN
authors.lastname: Gamble
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Bo
authors.initials: B
authors.lastname: Yuan
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Samantha
authors.initials: S
authors.lastname: Penney
authors.affiliation: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Shalini
authors.initials: S
authors.lastname: Jhangiani
authors.affiliation: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Donna M
authors.initials: DM
authors.lastname: Muzny
authors.affiliation: 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gibbs
authors.affiliation: 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA [3] Texas Children's Hospital, Houston, TX, USA [4] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.affiliation: Department of Pediatrics, UT Health Medical School, Houston, TX, USA.
authors.forename: Jacqueline T
authors.initials: JT
authors.lastname: Hecht
mesh_terms: D000595:Amino Acid Sequence; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D059472:Exome; D005260:Female; D024022:Fibrillar Collagens / Q000737:chemistry / Q000235:genetics*; D005500:Follow-Up Studies; D018703:Founder Effect; D005838:Genotype; D006630:Hispanic or Latino; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011460:Prostaglandins F; D011647:Puerto Rico / Q000453:epidemiology; D016415:Sequence Alignment
chemical_list: C480971:COL27A1 protein, human; D024022:Fibrillar Collagens; D011460:Prostaglandins F