Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

ABSTRACT:

Background

Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.

Methods

Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.

Results

We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes (CNTNAP1, MAGEL2</

SUBMITTER: Laquerriere A 

PROVIDER: S-EPMC9132874 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature