Your browser doesn't support javascript.
loading
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka, Luciana Midori; Guerra-Peixe, Matheus; Macedo-Souza, Lúcia Inês; Pedreira, Christiane Cobas; Gurgel-Giannetti, Juliana; Monteiro, Fabiola Paoli; Ramos, Luiza; Costa, Larissa Athayde; Crippa, Ana Chrystina de Souza; Lourenco, Charles Marques; Pachito, Daniela Viana; Sukys-Claudino, Lucia; Gaspar, Leonardo Salvador; Antoniuk, Sergio Antonio; Dutra, Luis Paulo de Souza; Diniz, Sabrina Stephanie Lana; Pires, Rafaelle Batistella; Garzon, Eliana; Kok, Fernando.
Afiliación
  • Inuzuka LM; Epilepsy Clinic, Sírio-Libanes Hospital, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil. Electronic address: lminuzuka@gmail.com.
  • Guerra-Peixe M; Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.
  • Macedo-Souza LI; Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.
  • Pedreira CC; Epilepsy Clinic, Sírio-Libanes Hospital, São Paulo, Brazil.
  • Gurgel-Giannetti J; Department of Pediatrics, Federal University of Minas Gerais School of Medicine, Belo Horizonte, Brazil.
  • Monteiro FP; Mendelics Genomic Analysis, São Paulo, Brazil.
  • Ramos L; Mendelics Genomic Analysis, São Paulo, Brazil.
  • Costa LA; Mendelics Genomic Analysis, São Paulo, Brazil.
  • Crippa ACS; Department of Neurology, Federal University of Paraná School of Medicine, Curitiba, Brazil.
  • Lourenco CM; Neurogenetics, School of Medicine - Centro Universitario Estacio, Ribeirao Preto, Brazil.
  • Pachito DV; Epilepsy Clinic, Sírio-Libanes Hospital, São Paulo, Brazil.
  • Sukys-Claudino L; Department of Neurology and Psychiatry, Federal University of Santa Catarina School of Medicine, Florianópolis, Brazil.
  • Gaspar LS; Department of Neurology and Psychiatry, Federal University of Santa Catarina School of Medicine, Florianópolis, Brazil.
  • Antoniuk SA; Department of Neurology, Federal University of Paraná School of Medicine, Curitiba, Brazil.
  • Dutra LPS; Department of Neurology, Federal University of Paraná School of Medicine, Curitiba, Brazil.
  • Diniz SSL; Department of Pediatrics, Federal University of Minas Gerais School of Medicine, Belo Horizonte, Brazil.
  • Pires RB; Department of Medical Sciences, Nove de Julho University, Bauru, Brazil.
  • Garzon E; Epilepsy Clinic, Sírio-Libanes Hospital, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.
  • Kok F; Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil; Mendelics Genomic Analysis, São Paulo, Brazil.
Eur J Paediatr Neurol ; 34: 7-13, 2021 Sep.
Article en En | MEDLINE | ID: mdl-34271245
OBJECTIVE: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. METHODS: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well-characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020). RESULTS: The literature search yielded a total of 3,185 publications, of which 58 were included in our systematic review. We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and macroorchidism (PPM-X). In our cohort, we met eight individuals aged 4 to 19-year-old at the last evaluation. Three MECP2-associated phenotypes were seen in male carriers of a single copy of the gene: severe neonatal encephalopathy (n = 5); X-linked intellectual deficiency 13 (n = 2); and pyramidal signs, parkinsonism, and macroorchidism (PPM-X) (n = 1). Two novel de novo variants [p.(Gly252Argfs∗7) and p.(Tyr132Cys)] were detected. CONCLUSION: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those with Klinefelter syndrome or somatic mosaicism for MECP2.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Síndrome de Rett / Discapacidad Intelectual Tipo de estudio: Systematic_reviews Límite: Adolescent / Adult / Child / Child, preschool / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Síndrome de Rett / Discapacidad Intelectual Tipo de estudio: Systematic_reviews Límite: Adolescent / Adult / Child / Child, preschool / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article Pais de publicación: Reino Unido