title: A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.
abstract: Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, deafness, diabetes mellitus and progressive extrapyramidal defects. Mutations in the gene C2orf37 are the cause of Woodhouse-Sakati syndrome. In the present study, a four-generation consanguineous family with clinical manifestations of WSS was ascertained from a remote region of Pakistan. Linkage in the family was tested using microsatellite markers linked to several genes involved in producing WSS related phenotypes. Linkage in the family was established to the gene C2orf37, mapped on chromosome 2q22.3-2q35. DNA sequence analysis revealed a novel splice site mutation involving a homozygous G→A transition in the splice donor site of intron 3 (c.321+1G>A) of C2orf37. This study presents a first report of Woodhouse-Sakati syndrome identified in Pakistani population.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Rabia
authors.initials: R
authors.lastname: Habib
authors.forename: Sulman
authors.initials: S
authors.lastname: Basit
authors.forename: Saadullah
authors.initials: S
authors.lastname: Khan
authors.forename: Muhammad Nasim
authors.initials: MN
authors.lastname: Khan
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000505:Alopecia; D001145:Arrhythmias, Cardiac; D001480:Basal Ganglia Diseases; D001483:Base Sequence; D002889:Chromosomes, Human, Pair 2; D003241:Consanguinity; D003920:Diabetes Mellitus; D005260:Female; D006801:Humans; D007006:Hypogonadism; D008607:Intellectual Disability; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D022821:RNA Splice Sites; D043743:Ubiquitin-Protein Ligase Complexes
chemical_list: C556016:DCAF17 protein, human; D009687:Nuclear Proteins; D022821:RNA Splice Sites; D043743:Ubiquitin-Protein Ligase Complexes