Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

Abstract

Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. [1996]. Most of the DAs are inherited as autosomal dominant disorders. DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures, congenital hip dislocation, club foot, ptosis and other eye findings, furrowed tongue, and scoliosis. Here, we report on a family with clinical features of DA type 5D with novel mutations in the ECEL1 gene.

• Authors: Siddaramappa J Patil, Gaurava Kumar Rai, Venkatraman Bhat, Vakkalagadda A Ramesh, H A Nagarajaram, Jyoti Matalia, Shubha R Phadke
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 11 Pg. 2857-62 (Nov 2014) ISSN: 1552-4833 [Electronic] United States
• PMID: 25099528 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• ECEL1 protein, human
• Metalloendopeptidases

Topics

• Abnormalities, Multiple
• Amino Acid Sequence
• Arthrogryposis (diagnosis, genetics)
• Bone and Bones (diagnostic imaging, pathology)
• DNA Mutational Analysis
• Facies
• Genetic Association Studies
• Genotype
• Humans
• Male
• Metalloendopeptidases (chemistry, genetics)
• Models, Molecular
• Molecular Sequence Data
• Mutation
• Phenotype
• Protein Conformation
• Radiography
• Sequence Alignment