Mutations in C2orf37

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• 作者：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 D ; a ; Kailash P. Bhatia ; Susanne A. Schneider ; Nadia Sakati ; Christopher A. Walsh ; Futwan Al-Mohanna ; Brian Mey
• 刊名：The American Journal of Human Genetics
• 出版年：2008
• 出版时间：12 December 2008
• 年：2008
• 卷：83
• 期：6
• 页码：684-691
• 全文大小：1191 K

文摘

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.