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

Claudia Gonzaga-Jauregui; Candace N Gamble; Bo Yuan; Samantha Penney; Shalini Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Jacqueline T Hecht

doi:10.1038/ejhg.2014.107

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

Eur J Hum Genet. 2015 Mar;23(3):342-6. doi: 10.1038/ejhg.2014.107. Epub 2014 Jul 2.

Authors

Claudia Gonzaga-Jauregui¹, Candace N Gamble², Bo Yuan¹, Samantha Penney¹, Shalini Jhangiani³, Donna M Muzny³, Richard A Gibbs⁴, James R Lupski⁵, Jacqueline T Hecht²

Affiliations

¹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
² Department of Pediatrics, UT Health Medical School, Houston, TX, USA.
³ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
⁴ 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.
⁵ 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.

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.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Amino Acid Sequence
Child, Preschool
Comparative Genomic Hybridization
Exome
Female
Fibrillar Collagens / chemistry
Fibrillar Collagens / genetics*
Follow-Up Studies
Founder Effect*
Genotype
Hispanic or Latino
Humans
Infant
Male
Molecular Sequence Data
Mutation*
Osteochondrodysplasias / diagnosis
Osteochondrodysplasias / genetics*
Pedigree
Polymorphism, Single Nucleotide
Prostaglandins F
Puerto Rico / epidemiology
Sequence Alignment

Substances

COL27A1 protein, human
Fibrillar Collagens
Prostaglandins F

Abstract

Publication types

MeSH terms

Substances

Grants and funding