Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome by Alazami Anas M, Al-Saif Amr, Al-Semari Abdulaziz, Bohlega Saeed, Zlitni Soumaya, Alzahrani Fatema, Bavi Prashant, Kaya Namik, Colak Dilek, Khalak Hanif, Baltus Andy, Peterlin Borut, Danda Sumita, Bhatia Kailash P, Schneider Susanne A, Sakati Nadia, Walsh Christopher A, Al-Mohanna Futwan, Meyer Brian, Alkuraya Fowzan S in American journal of human genetics (2008).

[PMID: 19026396] PubMed


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.

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