A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.

ABSTRACT:

Background

Brachydactyly type E (BDE) is a general term characterized by variable shortening of metacarpals and metatarsals, with phalanges affected frequently. It can occur as an isolated form or part of syndromes and manifest a high degree of phenotypic variability. In this study, we have identified the clinical characteristics and pathogenic causes of a four-generation pedigree with 10 members affected by BDE and short stature.

Methods

After the informed consent was signed, clinical data and peripheral blood samples were collected from available family members. Karyotype analysis, array-CGH, next-generation sequencing, and Sanger sequencing were employed to identity the pathogenic candidate gene.

Results

No translocation or microdeletion/duplication was found in ka

SUBMITTER: Sun J 

PROVIDER: S-EPMC10844838 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature