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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.
AuthorsAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Colak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P Bhatia, Susanne A Schneider, Nadia Sakati, Christopher A Walsh, Futwan Al-Mohanna, Brian Meyer, Fowzan S Alkuraya
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 83 Issue 6 Pg. 684-91 (Dec 2008) ISSN: 1537-6605 [Electronic] United States
PMID19026396 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DCAF17 protein, human
  • Nuclear Proteins
  • Ubiquitin-Protein Ligase Complexes
Topics
  • Alopecia (genetics)
  • Amino Acid Sequence
  • Basal Ganglia Diseases (genetics)
  • Base Sequence (genetics)
  • Chromosomes, Human, Pair 2
  • Conserved Sequence
  • Diabetes Mellitus (genetics)
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Genome, Human
  • Haplotypes
  • Homozygote
  • Humans
  • Hypogonadism (genetics)
  • Intellectual Disability (genetics)
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins (chemistry, genetics, metabolism)
  • Open Reading Frames
  • Pedigree
  • Physical Chromosome Mapping
  • Sequence Analysis, DNA
  • Sequence Deletion
  • Syndrome
  • Ubiquitin-Protein Ligase Complexes

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