Biallelic Missense Mutation in the Underlies Distal Arthrogryposis Type 5 (DA5D).

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ID: 53808
2019
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Abstract
Distal arthrogryposis (DA) is a heterogeneous sub-group of arthrogryposis multiplex congenita (AMC), mostly characterized by having congenital contractures affecting hands, wrists, feet, and ankles. Distal arthrogryposis is mostly autosomal dominantly inherited, while only one sub-type DA type 5D is inherited in an autosomal recessive manner. Clinically, DA5D is described having knee extension contractures, micrognathia, distal joint contractures, clubfoot, ptosis, contractures (shoulders, elbows, and wrists), and scoliosis. Using whole exome sequencing (WES) followed 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 gene. Our result support that homozygous mutations in causes DA5D and expands the clinical and allelic spectrum of related contracture syndromes.
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umair2019biallelicfrontiers Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Umair, Muhammad;Khan, Amjad;Hayat, Amir;Abbas, Safdar;Asiri, Abdulaziz;Younus, Muhammad;Amin, Wajid;Nawaz, Shoaib;Khan, Shazia;Malik, Erum;Alfadhel, Majid;Ahmad, Farooq;
Journal frontiers in pediatrics
Year 2019
DOI
10.3389/fped.2019.00343
URL
Keywords
da5d ecel1 contractures distal arthrogryposis missense mutation

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