Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
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DOI：
10.1038/ejhg.2009.175
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发表时间：
2010-03-01
影响因子：
5.2
通讯作者：
Gecz, Jozef
中科院分区：
文献类型：
--
作者：
Rujirabanjerd, Sinitdhorn;Nelson, John;Gecz, Jozef
精神发育迟滞（MR）的特征是在一个已发表的非综合征性MR家族中出现认知障碍，IQ A），MRX 13。这种变化发生在高度保守的氨基酸中，脯氨酸（P）被苏氨酸（T）取代（p.P544T）。功能分析表明，这种氨基酸取代损害了JARID 1C蛋白的三脱甲基酶和二脱甲基酶活性。我们的结论是，这两个新的变化损害JARID 1C蛋白的功能，并在这些家庭致病突变。欧洲人类遗传学杂志（2010）18，330-335; doi：10.1038/ejhg.2009.175; 2009年10月14日在线发表
Mental retardation (MR) is characterized by cognitive impairment with an IQ A) in a published family with nonsyndromic MR, MRX13. This change occurs in a highly conserved amino acid, with proline (P) being substituted by threonine (T) (p.P544T). Functional analysis shows that this amino-acid substitution compromises both tri-and didemethylase activity of the JARID1C protein. We conclude that the two novel changes impair JARID1C protein function and are disease-causing mutations in these families. European Journal of Human Genetics (2010) 18, 330-335; doi:10.1038/ejhg.2009.175; published online 14 October 2009