Article
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.
BioMed research international - 1 Jan 2020
Jin Jie-Yuan, Liu Dan-Yu, Jiao Zi-Jun, Dong Yi, Li Jie, Xiang Rong
Abstract excerpt
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...
Topics
- Arthrogryposis
- Child
- DNA Mutational Analysis
- Humans
- Male
- Metalloendopeptidases
- Mutation
- Ophthalmoplegia
- Pedigree
- Polymorphism, Single Nucleotide
- Retinal Diseases