التفاصيل البيبلوغرافية
| العنوان: |
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D. |
| المؤلفون: |
Jie-Yuan Jin, Dan-Yu Liu, Zi-Jun Jiao, Yi Dong, Jie Li, Rong Xiang |
| المصدر: |
BioMed Research International; 5/23/2020, p1-6, 6p |
| مصطلحات موضوعية: |
FINGER abnormalities, ELBOW abnormalities, ARTHROGRYPOSIS, GENETIC mutation, PROTEOLYTIC enzymes, SEQUENCE analysis |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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