Expanding phenotype of XNP mutations:: Mild to moderate mental retardation

被引:35
作者
Yntema, HG
Poppelaars, FA
Derksen, E
Oudakker, AR
van Roosmalen, T
Jacobs, A
Obbema, H
Brunner, HG
Hamel, BCJ
van Bokhoven, H
机构
[1] Univ Nijmegen, Ctr Med, Dept Human Genet 417, NL-6500 HB Nijmegen, Netherlands
[2] Univ Nijmegen, Ctr Med, Dept Child Neurol, Nijmegen, Netherlands
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 110卷 / 03期
关键词
XLMR; ATR-X; XNP;
D O I
10.1002/ajmg.10446
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Mutations in the XNP gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with facial dysmorphisms. In this report, we describe a missense mutation in exon 18 in a family with borderline to moderate MR. Like other disorders associated with an XNP mutation, skewed X-inactivation was found in all carrier females in this family. Only retrospective examination revealed childhood facial hypotonia and HbH inclusions in some of the affected males. These results expand the spectrum of clinical phenotypes known to be due to mutations in the XNP gene, and indicate that XNP mutation analysis should not be restricted to patients with severe MR and characteristic facial features. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码:243 / 247
页数:5
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