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Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations

Department of Pediatric Neurology, Sheba Medical Center, Tel-Hashomer, Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Yuval Yaron, MD

Genetic Institute and Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

N. Carolyn Schanen, MD

Department of Human Genetics and Pediatrics and the Mental Retardation Research Center, UCLA School of Medicine, Los Angeles, California

Haika Wolf, PhD

Genetic Institute and Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

Nathan Brandt, MD

Department of Pediatric Neurology, Sheba Medical Center, Tel-Hashomer, Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Nathan Ginot, MD

Institute for Neuropediatrics and Child Development, Meir General Hospital, Kfar Saba, Israel

Ruth Shomrat, PhD

Genetic Institute and Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

Avi Orr-Urtreger, MD, PhD

Genetic Institute and Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, aviorr{at}tasmc.health.gov.il, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

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).

Journal of Child Neurology, Vol. 17, No. 1, 20-24 (2002)
DOI: 10.1177/088307380201700105


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