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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

2008; Elsevier BV; Volume: 83; Issue: 6 Linguagem: Inglês

10.1016/j.ajhg.2008.10.018

1537-6605

Anas M. Alazami, Amr Al‐Saif, Abdulaziz Alsemari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Çolak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P. Bhatia, Susanne A. Schneider, Nadia Sakati, Christopher A. Walsh, Futwan Al‐Mohanna, Brian F. Meyer, Fowzan S. Alkuraya,

Cancer-related gene regulation

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. 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.