Rett syndrome: Clinical manifestations in males with MECP2 mutations

Bruria Ben Zeev, Yuval Yaron, N. Carolyn Schanen, Haika Wolf, Nathan Brandt, Nathan Ginot, Ruth Shomrat, Avi Orr-Urtreger

Research output: Contribution to journalArticlepeer-review


Rett syndrome is a neurodevelopmental disorder characterized by cognitive and adaptive regression with autistic features, loss of acquired skills, and stereotypic hand movements that almost exclusively affects females. It is an X-linked dominant disorder, with presumed lethality in males. Nonetheless, there are a few descriptions of males suspected of having Rett syndrome. With the recent discovery that the MECP2 gene is responsible for most cases of Rett syndrome, it is possible to molecularly assess cases of affected males by direct sequencing analysis. We describe an Israeli family consisting of a female having classic Rett syndrome and a male sibling with severe neonatal encephalopathy. Molecular analysis revealed that both sister and brother have the same MECP2 gene mutation; however, their mother does not. This case, as well as other published studies of males with MECP2 mutations, reveals that the clinical manifestations in viable males vary from neonates with severe encephalopathy to adults with mental retardation and demonstrate genotype-phenotype correlations.

Original languageEnglish
Pages (from-to)20-24
Number of pages5
JournalJournal of Child Neurology
Issue number1
StatePublished - Jan 2002


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