Biallelic Missense Mutation in the ECEL1 underlies Distal Arthrogryposis Type 5 (DA5D)
2019
Distal arthrogryposis(DA) is a heterogeneous sub-group of
arthrogryposis multiplex congenita(AMC), mostly characterized by having
congenital contracturesaffecting hands, wrists, feet, and ankles.
Distal arthrogryposisis mostly
autosomaldominantly inherited, while only one sub-type DA type 5D is inherited in an
autosomalrecessive manner. Clinically, DA5D is described as having knee extension
contractures, micrognathia, distal joint
contractures,
clubfoot,
ptosis,
contractures(shoulders, elbows, and wrists) and scoliosis. Using whole
exome sequencingfollowed by
Sanger sequencing, we report on a first familial case of DA5D from Pakistani population having a novel biallelic
missense mutation(c.158C>A, p.Pro53Leu) in the ECEL1 gene. Our results support that homozygous mutations in ECEL1 causes DA5D and expands the clinical and allelic spectrum of ECEL1 related
contracturesyndromes.
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