Open AccessFunctional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism
Author(s) -
Katelyn S. Weymouth,
Susan H. Blanton,
Tamar Powell,
Chandrashekhar V. Patel,
Stuart Savill,
Jacqueline Hecht
Publication year - 2016
Publication title -
clinical orthopaedics and related research
Language(s) - English
Resource type - Journals
eISSN - 1528-1132
pISSN - 0009-921X
DOI - 10.1007/s11999-016-4788-1
Subject(s) - genetics , single nucleotide polymorphism , allele , gene , biology , haplotype , promoter , gene expression , genotype
Isolated nonsyndromic clubfoot is a common birth defect affecting 135,000 newborns worldwide each year. Although treatment has improved, substantial long-term morbidity persists. Genetic causes have been implicated in family-based studies but the genetic changes have eluded identification. Previously, using a candidate gene approach in our family-based dataset, we identified associations between clubfoot and four single nucleotide polymorphisms (SNPs) located in potential regulatory regions of genes involved in muscle development and patterning (HOXA9) and muscle function (TPM1 and TPM2) were identified.