Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations

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. Nonetheles...

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Bibliographic Details
Published in:	Journal of child neurology Vol. 17; no. 1; pp. 20 - 24
Main Authors:	Ben Zeev, Bruria, Yaron, Yuval, Schanen, N. Carolyn, Wolf, Haika, Brandt, Nathan, Ginot, Nathan, Shomrat, Ruth, Orr-Urtreger, Avi
Format:	Journal Article
Language:	English
Published:	Thousand Oaks, CA SAGE Publications 01-01-2002
Subjects:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Atrophy Cerebral Cortex - pathology Chromosomal Proteins, Non-Histone DNA-Binding Proteins - genetics Female Follow-Up Studies Frameshift Mutation - genetics Genotype Humans Infant Infant, Newborn Magnetic Resonance Imaging Male Methyl-CpG-Binding Protein 2 Muscle Hypotonia - diagnosis Muscle Hypotonia - genetics Phenotype Repressor Proteins Rett Syndrome - diagnosis Rett Syndrome - genetics Sequence Analysis, DNA
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Summary:	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. (J Child Neurol 2002;17:20-24).
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0883-0738 1708-8283
DOI:	10.1177/088307380201700105