Ontology highlight
ABSTRACT:
SUBMITTER: Merrill AE
PROVIDER: S-EPMC2667993 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
American journal of human genetics 20090401 4
The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound heterozygosi ...[more]