Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).

ABSTRACT:

Background

Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by multiple joint involvement, primarily affecting limb mobility and leading to various tissue contractures. Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum of malformations. This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC.

Methods

We recruited a Chinese female patient with hand-related AMC and her family members. Whole-exome sequencing (WES) was employed to determine the genetic etiologies of the patient's disease. The pathogenic mechanisms of the identified variations were analyzed using protein tolerance profiling and modeling.

Results

SUBMITTER: Lu YL 

PROVIDER: S-EPMC11748807 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature