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
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DOI：
10.1016/j.ajhg.2008.10.018
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发表时间：
2008-12-12
影响因子：
9.8
通讯作者：
Alkuraya, Fowzan S.
中科院分区：
文献类型：
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作者：
Alazami, Anas M.;Al-Saif, Amr;Alkuraya, Fowzan S.
性腺功能减退、脱发、糖尿病、智力低下和锥体外系综合征（也称为Woodhouse-Sakati综合征）是一种罕见的常染色体隐性多系统疾病。我们在8个沙特血统的家庭中发现了C2orf37中单个碱基对缺失的创始突变。随后在不同种族的患者中发现了另外三种功能丧失突变。该基因编码一种功能未知的核仁蛋白，在患者淋巴母细胞中观察到的细胞表型暗示核仁在这种疾病的发病机制中的作用。我们的发现扩展了与核仁相关的人类疾病列表，并进一步强调了这种细胞器的发育和/或维持功能。
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.