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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
Author(s) -
Wada Takahito,
Sugie Hideo,
Fukushima Yoshimitsu,
Saitoh Shinji
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30901
Subject(s) - atrx , x inactivation , x chromosome , allele , fragile x syndrome , fragile x , genetics , gene , skewed x inactivation , alpha thalassemia , biology , mutation , genotype
Abstract X‐linked α‐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. © 2005 Wiley‐Liss, Inc.