2. Academic Validation
  3. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

  • Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018.
Anas M Alazami 1,  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
Affiliations

Affiliation

  • 1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
PMID: 19026396 DOI: 10.1016/j.ajhg.2008.10.018
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.

Figures