title: Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.
abstract: Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmental delay prior to the age of 6 months and later exhibited characteristic features of RTT that included air swallowing, bruxism, and hand stereotypies. Results of an array-based comparative genomic hybridization analysis indicated there was a very small microdeletion in Xq28. Multiplex ligation-dependent probe amplification analysis further confirmed there were heterozygous deletions of intron 2, exon 3, intron 3, and part of exon 4 in MECP2. Findings in the present patient confirm the view that large MECP2 deletions are an important cause of severe congenital variant RTT. To ensure an accurate diagnosis of congenital variant RTT, a multiplex ligation-dependent probe amplification analysis of MECP2 should be performed in patients suspected of having this disorder.
authors: Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Nishi-ku, Niigata, Japan. u-kb@masa.go.jp
authors: Yu
authors: Y
authors: Kobayashi
authors: Tsukasa
authors: T
authors: Ohashi
authors: Noriyuki
authors: N
authors: Akasaka
authors: Jun
authors: J
authors: Tohyama
mesh_terms: D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2