ATRX公司
错义突变
遗传学
生物
单倍率不足
表型
锌指
突变
基因型
小头畸形
基因
转录因子
作者
Takahito Wada,Takeo Kubota,Yoshimitsu Fukushima,Shinji Saitoh
出处
期刊:PubMed
日期:2000-09-18
卷期号:94 (3): 242-8
被引量:8
标识
DOI:10.1002/1096-8628(20000918)94:3<242::aid-ajmg11>3.0.co;2-k
摘要
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is one of the many known X-linked mental retardation syndromes. Mutations in the ATR-X gene (ATRX) that encodes a putative global transcription factor have been identified in patients with ATR-X as well as those with other forms of X-linked mental retardation syndrome. To better understand the genetic basis of ATR-X, we investigated nine patients with the ATR-X phenotype from eight independent Japanese families for mutations in ATRX. We identified seven missense mutations, including six novel mutations, all of which were located either in the N-terminal region corresponding to the putative zinc finger domain (N179S, P190L, V194I, and R246C) or in the C-terminal region corresponding to the helicase domain (V1552F, L1645S, and Y1847C). R246C was found in two independent patients. Furthermore, we investigated the origin of the mutations in seven mothers. Five mothers were found to be carriers, and two were not, indicating de novo origin of the mutations. When we compared clinical manifestations with respective mutations, we could not find apparent phenotype-genotype correlation. Therefore, the putative zinc finger domain and the helicase domains may have similar functional significance for the function of ATRX.
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