A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.

ABSTRACT:

Background

Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A-E. However, the exact cause and mechanism of BD remain to be illuminated. Here, we aim to reveal the clinical and genetic characteristics of a subtype of BD, brachydactyly-anonychia.

Methods

In this study, a large Chinese family with three members affected by brachydactyly-anonychia was investigated. Both whole-exome sequencing and microarray-based comparative genomic hybridization (CGH) were performed on this family and the results of copy number variation (CNV) were verified by quantitative real-time PCR (qPCR).

Results

All the affected individuals showed short fingers and toes as well as mi

SUBMITTER: Liu M 

PROVIDER: S-EPMC7507485 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature