title: 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.affiliation: Centre for Molecular and Metabolic Diagnostics & Research, Narayana Hrudayalaya Hospitals, Bangalore, India.
authors.forename: Siddaramappa J
authors.initials: SJ
authors.lastname: Patil
authors.forename: Gaurava Kumar
authors.initials: GK
authors.lastname: Rai
authors.forename: Venkatraman
authors.initials: V
authors.lastname: Bhat
authors.forename: Vakkalagadda A
authors.initials: VA
authors.lastname: Ramesh
authors.forename: H A
authors.initials: HA
authors.lastname: Nagarajaram
authors.forename: Jyoti
authors.initials: J
authors.lastname: Matalia
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D000015:Abnormalities, Multiple; D000595:Amino Acid Sequence; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D004252:DNA Mutational Analysis; D019066:Facies; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000737:chemistry / Q000235:genetics*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D011487:Protein Conformation; D011859:Radiography; D016415:Sequence Alignment
chemical_list: C492359:ECEL1 protein, human; D008666:Metalloendopeptidases
keywords: camptodactyly; club foot; distal arthrogryposis; furrowed tongue; hip dislocation; knee extension contractures; light pigmented fundus; scoliosis