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Distal arthrogryposis type 5D with a novel ECEL1 gene mutation
Author(s) -
Patil Siddaramappa J.,
Rai Gaurava Kumar,
Bhat Venkatraman,
Ramesh Vakkalagadda A.,
Nagarajaram H.A.,
Matalia Jyoti,
Phadke Shubha R.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36702
Subject(s) - arthrogryposis , muscle contracture , arthrogryposis multiplex congenita , medicine , scoliosis , genetics , anatomy , biology
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. © 2014 Wiley Periodicals, Inc.