Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.

ABSTRACT:

Background

Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog (IHH) gene, which plays a key role in endochondral ossification. To date, heterozygous pathogenic IHH variants involving several codons, which are restricted to a specific region of the N-terminal active fragment of IHH, have been reported. The purpose of this study was to identify the pathogenic variant in a Japanese family with BDA1 and to evaluate its pathogenesis with regard to previous reports.

Methods

The proband, a 9-year-old boy, his siblings, and his father had shortened digits and a short stature of variable severity. Based on physical examinations, radiographic fin

SUBMITTER: Ozaki N 

PROVIDER: S-EPMC8314500 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature