Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

被引:39
作者
Kleefstra, T
Franken, CE
Arens, YHJM
Ramakers, GJA
Yntema, HG
Sistermans, EA
Hulsmans, CFCH
Nillesen, WN
van Bokhoven, H
de Vries, BBA
Hamel, BCJ
机构
[1] Univ Med Ctr, Dept Human Genet, Nijmegen, Netherlands
[2] Acad Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands
[3] Netherlands Inst Brain Res, Neurons & Networks Grp, Amsterdam, Netherlands
[4] Univ Med Ctr, Dept Paediat Neurol, Nijmegen, Netherlands
关键词
PQBP1; XLMR; genotype; phenotype;
D O I
10.1111/j.1399-0004.2004.00308.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Recently, the polyglutamine-binding protein 1 (PQBP1) gene was found to be mutated in five of 29 families studied with X-linked mental retardation (XLMR) linked to Xp. The reported mutations include duplications or deletions of AG dinucleotides in the fourth coding exon that resulted in shifts of the open reading frame. Three of the five families with mutations in this newly identified XLMR gene have been reported previously. We characterized the phenotypic and neuropsychological features in the two unpublished families with aberrations in PQBP1 and in a family reported 10 years ago. In total, seven patients diagnosed with aberrations in this gene were examined, including a newly identified patient at 18 months of age. Additionally, the features were compared to those reported in the literature of three other families, comprising MRXS3 (Sutherland-Haan syndrome) MRX55 and MRXS8 (Renpenning syndrome). Characteristics seen in these patients are microcephaly, lean body habitus, short stature, striking facial appearance with long narrow faces, upward slant of the eyes, malar hypoplasia, prognathism, high-arched palate and nasal speech. In addition, small testes and midline defects as anal atresia or imperforate anus, clefting of palate and/or uvula, iris coloboma and Tetralogy of Fallot are seen in several patients. These observations contribute to the phenotypic knowledge of patients with PQBP1 mutations and make this XLMR syndrome well recognizable to clinicians.
引用
收藏
页码:318 / 326
页数:9
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