Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X):: X-inactivation study of nine female carriers of ATR-X
Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X):: X-inactivation study of nine female carriers of ATR-X
复制标题
DOI：
10.1002/ajmg.a.30901
复制
发表时间：
2005-09-15
影响因子：
2
通讯作者：
Saitoh, S
中科院分区：
文献类型：
--
作者：
Wada, T;Sugie, H;Saitoh, S
X-连锁α-地中海贫血/精神发育迟滞综合征（ATR-X）是X-连锁精神发育迟滞的综合征形式。我们调查了9名女性ATR-X载体的甲基化特异性PCR的HUMARA基因的X失活状态。6名携带者表现出偏态X失活模式（> 90：10），1名表现出非偏态模式（72：28），而2名携带者由于HUMARA中CAG重复多态性等位基因的纯合性而无信息。只有携带者母亲谁表现出非偏态X-失活有中度精神发育迟滞。这些发现表明，如果携带突变的ATRX的X染色体未被适当灭活，ATRX的突变可能会导致女性精神发育迟滞。(c)2005 Wiley-Liss，Inc.
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is a syndromic form of X-linked mental retardation. We investigated the X-inactivation status of nine female ATR-X carriers by methylation-specific PCR of the HUMARA gene. Six carriers demonstrated a skewed X-inactivation pattern (> 90:10) and one showed a non-skewed pattern (72:28), while two were uninformative because of homozygosity for the CAG repeat polymorphic alleles in the HUMARA. Only the carrier mother who showed non-skewed X-inactivation had moderate mental retardation. These findings suggest that mutations in ATRX may cause mental retardation in females, if the X chromosome carrying mutated ATRX is not properly inactivated. (c) 2005 Wiley-Liss, Inc.