Portal de investigación
Molecular characterisation of Spanish patients with MECP2 duplication syndrome.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Pascual-Alonso A
- Blasco L
- Vidal S
- Gean E
- Rubio P
- O'Callaghan M
- Martínez-Monseny AF
- Castells AA
- Xiol C
- Català V
- Brandi N
- Pacheco P
- Ros C
- Del Campo M
- Guillén E
- Ibañez S
- Sánchez MJ
- Lapunzina P
- Nevado J
- Santos F
- Lloveras E
- Ortigoza-Escobar JD
- Tejada MI
- Maortua H
- Mesas MA
- Obón M
- Plaja A
- Fernández-Ramos JA
- Tizzano E
- Marín R
- Peña-Segura JL
- Alcántara S
- Armstrong J
Grupos
Abstract
MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterised by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterisation of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridisation (aCGH) and multiplex ligation-dependent probe amplification (MLPA). Using, a custom in-house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both MECP2 and IRAK1 was necessary for a correct MDS diagnosis, as patients with partial MECP2 duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype-phenotype correlations, and thus more personalised genetic counselling. This article is protected by copyright. All rights reserved.
Datos de la publicación
- ISSN/ISSNe:
- 0009-9163, 1399-0004
- Tipo:
- Article
- Páginas:
- 610-620
- DOI:
- 10.1111/cge.13718
- PubMed:
- 32043567
- Factor de Impacto:
- 1,543 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
CLINICAL GENETICS WILEY
Citas Recibidas en Web of Science: 10
Documentos
- No hay documentos
Filiaciones
Keywords
- IRAK1, MECP2 duplication, Methyl-CpG-binding protein 2 (MECP2), Xq28-duplication, genotype-phenotype correlation, hypotonia, intellectual disability, recurrent infections
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Cita
Pascual A,Blasco L,Vidal S,Gean E,Rubio P,O'Callaghan M,Martínez AF,Castells AA,Xiol C,Català V,Brandi N,Pacheco P,Ros C,Del Campo M,Guillén E,Ibañez S,Sánchez MJ,Lapunzina P,Nevado J,Santos F,Lloveras E,Ortigoza JD,Tejada MI,Maortua H,MARTÍNEZ F,ORELLANA C,ROSELLÓ M,Mesas MA,Obón M,Plaja A,Fernández JA,Tizzano E,Marín R,Peña JL,Alcántara S,Armstrong J. Molecular characterisation of Spanish patients with MECP2 duplication syndrome. Clin. Genet. 2020. 97. (4):p. 610-620. IF:4,438. (2).