1. Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)
- Author
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Muhammad Umair, Amjad Khan, Amir Hayat, Safdar Abbas, Abdulaziz Asiri, Muhammad Younus, Wajid Amin, Shoaib Nawaz, Shazia Khan, Erum Malik, Majid Alfadhel, and Farooq Ahmad
- Subjects
musculoskeletal diseases ,Clubfoot ,DA5D ,Case Report ,030204 cardiovascular system & hematology ,Pediatrics ,03 medical and health sciences ,0302 clinical medicine ,Ptosis ,030225 pediatrics ,medicine ,Missense mutation ,distal arthrogryposis ,Exome sequencing ,Muscle contracture ,Arthrogryposis multiplex congenita ,business.industry ,missense mutation ,lcsh:RJ1-570 ,lcsh:Pediatrics ,Anatomy ,medicine.disease ,contractures ,Pediatrics, Perinatology and Child Health ,ECEL1 ,Congenital contracture ,Contracture ,medicine.symptom ,business - 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 ECEL1 gene. Our result support that homozygous mutations in ECEL1 causes DA5D and expands the clinical and allelic spectrum of ECEL1 related contracture syndromes.
- Published
- 2019
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