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Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, ICBAS, University of Porto, Portugal

Teresa Temudo, MD

ICBAS, University of Porto, and the Hospital Geral de St Antonio, Porto, Portugal

Teresa Kay, MD

Hospital D. Estefania, Lisboa, Portugal

Inês Carrilho, MD

Hospital Maria Pia, Porto, Portugal

Ana Medeira, MD

Hospital St Maria, Lisboa, Portugal

Helena Cabral, MD

Centro Hospitalar do Funchal, Funchal, Portugal

Roseli Gomes, MD

Hospital Pedro Hispano, Matosinhos, Portugal

Maria Teresa Lourencço, MD

Hospital Egas Moniz, Lisboa, Portugal

Margarida Venâncio, MD

Centro Hospitalar de Coimbra, Coimbra, Portugal

Eulália Calado, MD

Hospital D. Estefania, Lisboa, Portugal

Ana Moreira, MD

Hospital D. Estefania, Lisboa, Portugal

Guiomar Oliveira, MD, PhD

Centro Hospitalar de Coimbra, Coimbra, Portugal

Patrícia Maciel, PhD

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, pmaciel{at}ecsaude.uminho.pt

Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbations of the autistic spectrum, microcephaly, mental retardation, manual stereotypies, and epilepsy. We analyzed the complete coding region of the MECP2 gene, including the detection of large rearrangements, and we did not detect any pathogenic mutations in the MECP2 gene in these patients, in whom the genetic basis of disease remained unidentified. Thus, additional genes should be screened in this group of patients.

Key Words: autism • neurodevelopment • Rett

Journal of Child Neurology, Vol. 24, No. 1, 49-55 (2009)
DOI: 10.1177/0883073808321043


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