A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
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DOI：
10.1038/sj.ejhg.5200362
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发表时间：
1999-09-01
影响因子：
5.2
通讯作者：
Horsthemke, B
中科院分区：
文献类型：
--
作者：
Gillessen-Kaesbach, G;Demuth, S;Horsthemke, B
Angelman综合征（AS）的临床特征包括严重的智力低下、产后小头畸形、大口畸形和先天性畸形、语言障碍、共济失调、脾气暴躁。我们报告了7例患者，他们缺乏这些特征中的大部分，但表现为肥胖、肌肉张力低下和轻度智力低下，根据后者的发现，患者最初怀疑患有prder - willi综合征，然而SNRPN和D15S63的DNA甲基化分析显示为AS模式，即母体带微弱或缺失。细胞遗传学研究和微卫星分析显示，双亲本遗传明显正常的染色体15，我们得出结论，这些患者有印记缺陷和以前未被识别的AS形式。轻度表型可能由不完全印迹缺陷或细胞嵌合现象来解释。
The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, anal a happy disposition. We report on seven patients who lack most sf these features, but presented with obesity, muscular hypotonia and mild mental retardation, Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome, DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance, We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.