Open AccessWhole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion
Author(s) -
A. Quiggle,
WuLin Charng,
Lilian Antunes,
Momchil A. Nikolov,
Xavier Bledsoe,
Jacqueline Hecht,
Matthew B. Dobbs,
Christina A. Gurnett
Publication year - 2021
Publication title -
clinical orthopaedics and related research
Language(s) - English
Resource type - Journals
eISSN - 1528-1132
pISSN - 0009-921X
DOI - 10.1097/corr.0000000000001957
Subject(s) - clubfoot , genetics , exome sequencing , exome , missense mutation , medicine , candidate gene , biology , gene , phenotype , deformity
Clubfoot, a congenital deformity that presents as a rigid, inward turning of the foot, affects approximately 1 in 1000 infants and occurs as an isolated birth defect in 80% of patients. Despite its high level of heritability, few causative genes have been identified, and mutations in known genes are only responsible for a small portion of clubfoot heritability.