Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

ABSTRACT:

Purpose

We aimed to identify the underlying genetic cause for a novel form of distal arthrogryposis.

Methods

Rare variant family-based genomics, exome sequencing, and disease-specific panel sequencing were used to detect ADAMTS15 variants in affected individuals. Adamts15 expression was analyzed at the single-cell level during murine embryogenesis. Expression patterns were characterized using in situ hybridization and RNAscope.

Results

We identified homozygous rare variant alleles of ADAMTS15 in 5 affected individuals from 4 unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. Radiographic investigations showed physiological interphalangeal joint morphology. Additional

SUBMITTER: Boschann F 

PROVIDER: S-EPMC9982667 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature