Clinical study and haplotype analysis in two brothers with Partington syndrome

被引:8
作者
Frints, SGM
Borghgraef, M
Froyen, G
Marynen, P
Fryns, JP
机构
[1] Univ Hosp Leuven, Dept Human Genet, Clin Genet Unit, B-3000 Louvain, Belgium
[2] Flanders Interuniv Inst Biotechnol, Human Genome Lab, Louvain, Belgium
[3] Univ Leuven, Dept Human Genet, Louvain, Belgium
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 112卷 / 04期
关键词
Partington syndrome; dystonia; dysarthria; X-linked mental retardation;
D O I
10.1002/ajmg.10630
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Partington et al. [1988] described a three-generation family (MRXS1, MIM *309510, PRTS) with a syndromic form of X-linked mental retardation (XLMR). The clinical features in 10 affected males included mild to moderate MR, dystonic movements of the hands, and dysarthria. After refinement, the PRTS locus was mapped to marker DXS989 (with maximum LOD score of 3.1) with flanking markers DXS365 and DXS28. Since then, no other patients with a similar phenotype have been described. We present a detailed description of the neurological symptoms and the disease history of two brothers with the clinical features of PRTS. Psychomotor development was delayed in both, and neurological features included mild to moderate mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements, and mild spasticity of the hands, without ataxia or spasticity of the legs. The symptoms were nonprogressive and extrapyramidal, and without cerebellar involvement. In general, behavior of the two brothers was friendly and quiet, although the elder brother had periods of depressed mood and outbursts of anger. Karyotypes and subsequent investigation of the subtelomeres as well as DNA analysis of the FMR1 gene, the androgen receptor gene, and the DM locus did not reveal a genetic abnormality. Haplotype analysis showed that the affected brothers share the PRTS region at Xp22.1. Mutation screening of the PDH-E1alpha gene did not reveal a pathogenic mutation. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码:361 / 368
页数:8
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