Topçu Meral, Akyerli Cemaliye, Sayi Ayça, Törüner Gökçe A, Koçoğlu Süha R, Cimbiş Mine, Ozçelik Tayfun
Department of Pediatric Neurology, Hacettepe University School of Medicine, Sihhiye, Ankara 0600, Turkey.
Eur J Hum Genet. 2002 Jan;10(1):77-81. doi: 10.1038/sj.ejhg.5200745.
Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.
瑞特综合征是一种严重的神经发育障碍，由X连锁的MECP2基因突变引起。由于突变主要发生在父源X染色体上，且疾病导致半合子男孩发生突变后具有早期出生后致死效应，因此几乎仅见于女孩。我们鉴定出一名具有典型瑞特综合征特征的男孩，其为截断型MECP2突变R270X的嵌合体。染色体分析显示核型正常。这些结果表明，与女性瑞特综合征相关的MECP2突变可因体细胞嵌合而在男性中导致相似的表型。
