The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.
Genotype-phenotype correlations
MECP2
Monogenic disorders
RTT
Rett syndrome
Rett-like
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
ISSN: 1532-2130
Titre abrégé: Eur J Paediatr Neurol
Pays: England
ID NLM: 9715169
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
received:
19
12
2018
revised:
12
02
2019
accepted:
28
04
2019
pubmed:
21
5
2019
medline:
19
11
2019
entrez:
21
5
2019
Statut:
ppublish
Résumé
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical. Here, we attempted to identify other monogenic disorders that share features of RTT. A total of 437 patients with a clinical diagnosis of RTT-like were studied; in 242 patients, a custom panel with 17 genes related to an RTT-like phenotype was run via a HaloPlex-Target-Enrichment-System. In the remaining 195 patients, a commercial TruSight-One-Sequencing-Panel was analysed. A total of 40 patients with clinical features of RTT had variants which affect gene function in six genes associated with other monogenic disorders. Twelve patients had variants in STXBP1, nine in TCF4, six in SCN2A, five in KCNQ2, four in MEF2C and four in SYNGAP1. Genetic studies using next generation sequencing (NGS) allowed us to study a larger number of genes associated with RTT-like simultaneously, providing a genetic diagnosis for a wider group of patients. These new findings provide the clinician with more information and clues that could help in the prevention of future symptoms or in pharmacologic therapy.
Identifiants
pubmed: 31105003
pii: S1090-3798(18)30565-8
doi: 10.1016/j.ejpn.2019.04.006
pii:
doi:
Substances chimiques
Methyl-CpG-Binding Protein 2
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
609-620Investigateurs
O'Callaghan Maria Del Mar
(O)
Àngels Garcia-Cazorla
(À)
Maria Del Carmen Serrano Munuera
(M)
Silvia Cuso García
(SC)
Monica Troncoso
(M)
Guillermo Fariña
(G)
Juan José García Peñas
(JJ)
Belen Gil Fournier
(BG)
Soraya Ramiro León
(SR)
Miriam Guitart
(M)
Neus Baena
(N)
Guiomar Perez de Nanclares
(GP)
Intzane Ocio Oci
(IO)
Eva Gutiérrez-Delicado
(E)
Belén Abarrategui
(B)
Eva Barroso
(E)
Fernando Santos-Simarro
(F)
Pablo Lapunzina
(P)
Francisco J García
(FJ)
Juan M Acedo
(JM)
Asunción García
(A)
Miguel A Martinez
(MA)
Antonio Martínez-Bermejo
(A)
Informations de copyright
Copyright © 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.