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The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D
Joint Authors
Liu, Danyu
Jin, Jie-Yuan
Jiao, Zi-Jun
Dong, Yi
Li, Jie
Xiang, Rong
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-05-27
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Introduction.
Distal arthrogryposis type 5D (DA5D) is an autosomal recessive disease.
The clinical symptoms include contractures of the joints of limbs, especially camptodactyly of the hands and/or feet, unilateral ptosis, a round-shaped face, arched eyebrows, and micrognathia, without ophthalmoplegia.
ECEL1 is a DA5D causative gene that encodes a membrane-bound metalloprotease.
ECEL1 plays important roles in the final axonal arborization of motor nerves in limb skeletal muscles and neuromuscular junction formation during prenatal development.
Methods.
A DA5D family with webbing of the elbows and fingers was recruited.
We performed whole-exome sequencing (WES) and filtered mutations by disease-causing genes of arthrogryposis multiplex congenita (AMC).
Mutational analysis and cosegregation confirmation were then performed.
Results.
We identified novel compound heterozygous mutations of ECEL1 (NM_004826: c.69C>A, p.C23∗ and c.1810G>A, p.G604R) in the proband.
Conclusions.
We detected causative mutations in a DA5D family, expanding the spectrum of known ECEL1 mutations and contributing to the clinical diagnosis of DA5D.
American Psychological Association (APA)
Jin, Jie-Yuan& Liu, Danyu& Jiao, Zi-Jun& Dong, Yi& Li, Jie& Xiang, Rong. 2020. The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D. BioMed Research International،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1132372
Modern Language Association (MLA)
Jin, Jie-Yuan…[et al.]. The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D. BioMed Research International No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1132372
American Medical Association (AMA)
Jin, Jie-Yuan& Liu, Danyu& Jiao, Zi-Jun& Dong, Yi& Li, Jie& Xiang, Rong. The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1132372
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1132372