title: Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
abstract: Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease. Our findings expand the list of human disorders linked to the nucleolus and further highlight the developmental and/or maintenance functions of this organelle.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Anas M
authors.initials: AM
authors.lastname: Alazami
authors.forename: Amr
authors.initials: A
authors.lastname: Al-Saif
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al-Semari
authors.forename: Saeed
authors.initials: S
authors.lastname: Bohlega
authors.forename: Soumaya
authors.initials: S
authors.lastname: Zlitni
authors.forename: Fatema
authors.initials: F
authors.lastname: Alzahrani
authors.forename: Prashant
authors.initials: P
authors.lastname: Bavi
authors.forename: Namik
authors.initials: N
authors.lastname: Kaya
authors.forename: Dilek
authors.initials: D
authors.lastname: Colak
authors.forename: Hanif
authors.initials: H
authors.lastname: Khalak
authors.forename: Andy
authors.initials: A
authors.lastname: Baltus
authors.forename: Borut
authors.initials: B
authors.lastname: Peterlin
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
authors.forename: Nadia
authors.initials: N
authors.lastname: Sakati
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
authors.forename: Futwan
authors.initials: F
authors.lastname: Al-Mohanna
authors.forename: Brian
authors.initials: B
authors.lastname: Meyer
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000505:Alopecia / Q000235:genetics; D000595:Amino Acid Sequence; D001480:Basal Ganglia Diseases / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002889:Chromosomes, Human, Pair 2; D017124:Conserved Sequence; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D015894:Genome, Human; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D016366:Open Reading Frames; D010375:Pedigree; D020161:Physical Chromosome Mapping; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D013577:Syndrome; D043743:Ubiquitin-Protein Ligase Complexes
chemical_list: C556016:DCAF17 protein, human; D009687:Nuclear Proteins; D043743:Ubiquitin-Protein Ligase Complexes