Case Report ARTICLE
Biallelic Missense Mutation in the ECEL1 underlies Distal Arthrogryposis Type 5 (DA5D)
- 1Quaid-i-Azam University, Pakistan
- 2King Abdullah International Medical Research Center KAIMRC, Saudi Arabia
- 3Peking University, China
- 4Kyoto University, Japan
- 5Abdul Wali Khan University Mardan, Pakistan
- 6Shah Abdul Latif University, Pakistan
- 7King Abdullah Specialized Children's Hospital, Saudi Arabia
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 as having knee extension contractures, micrognathia, distal joint contractures, clubfoot, ptosis, contractures (shoulders, elbows, and wrists) and scoliosis. Using whole exome sequencing 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 results support that homozygous mutations in ECEL1 causes DA5D and expands the clinical and allelic spectrum of ECEL1 related contracture syndromes.
Keywords: Distal arthrogryposis, DA5D, ECEL1, Contractures, Missense Mutation
Received: 14 Apr 2019;
Accepted: 31 Jul 2019.
Edited by:Nagwa E. Gaboon, Faculty of Medicine, Ain Shams University, Egypt
Reviewed by:Saadullah Khan, Kohat University of Science and Technology, Pakistan
Rahul Mittal, University of Miami, United States
Copyright: © 2019 Umair, Khan, Abbas, Ahmad, Younus, Amin, Nawaz, Hayat, Malik and Alfadhel. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Dr. Muhammad Umair, Quaid-i-Azam University, Islamabad, Pakistan, firstname.lastname@example.org