Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Anas 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

Affiliation:	¹ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia ² Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia ³ Biological Repository Section, King Faisal Specialist Hospital &; Research Center, Riyadh 11211, Saudi Arabia ⁴ Department of Biostatistics and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia ⁵ Division of Genetics and Metabolism, Department of Medicine, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA ⁶ Institute of Medical Genetics, Department of Obstetrics &; Gynecology, University Medical Center Ljubljana, 1000 Ljubljana, Slovenia ⁷ Clinical Genetics Unit, Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India ⁸ Sobell Department, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK ⁹ Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia ¹⁰ Department of Cell Biology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia ¹¹ Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia

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.

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