Neurodevelopmental phenotype associated ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Neurodevelopmental phenotype associated with chd8-supt16h duplication
Auteur(s) :
Smol, Thomas [Auteur]
Thuillier, Caroline [Auteur]
Boudry-Labis, Elise [Auteur]
Dieux-Coeslier, Anne [Auteur]
Duban-Bedu, Benedicte [Auteur]
Caumes, Roseline [Auteur]
Bouquillon, Sonia [Auteur]
Manouvrier, Sylvie [Auteur]
Roche-Lestienne, Catherine [Auteur]
Ghoumid, Jamal [Auteur]
Thuillier, Caroline [Auteur]
Boudry-Labis, Elise [Auteur]
Dieux-Coeslier, Anne [Auteur]
Duban-Bedu, Benedicte [Auteur]
Caumes, Roseline [Auteur]
Bouquillon, Sonia [Auteur]
Manouvrier, Sylvie [Auteur]
Roche-Lestienne, Catherine [Auteur]
Ghoumid, Jamal [Auteur]
Titre de la revue :
Neurogenetics
Nom court de la revue :
Neurogenetics
Date de publication :
2019-12-10
ISSN :
1364-6753
Mot(s)-clé(s) :
Cerebellar vermian anomaly
Autism spectrum disorder
Behaviour problems
CHD8-SUPT16H duplication syndrome
Autism spectrum disorder
Behaviour problems
CHD8-SUPT16H duplication syndrome
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency ...
Lire la suite >Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassing CHD8 and SUPT16H, has been described, highlighting the importance of a tight control of at least CHD8 gene-dosage for a normal development. There have been only a few reports of 14q11.2 microduplications. Patients showed variable neurodevelopmental issues of variable severity. Breakpoints of the microduplications were non-recurrent, making interpretation of the CNV and determination of their clinical relevance difficult. Here, we report on two patients with 14q11.2 microduplication encompassing CHD8 and SUPT16H, one of whom had normal intelligence. Review of previous reports describing patients with comparable microduplications allowed for a more precise delineation of the condition and widening of the phenotypic spectrum.Lire moins >
Lire la suite >Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassing CHD8 and SUPT16H, has been described, highlighting the importance of a tight control of at least CHD8 gene-dosage for a normal development. There have been only a few reports of 14q11.2 microduplications. Patients showed variable neurodevelopmental issues of variable severity. Breakpoints of the microduplications were non-recurrent, making interpretation of the CNV and determination of their clinical relevance difficult. Here, we report on two patients with 14q11.2 microduplication encompassing CHD8 and SUPT16H, one of whom had normal intelligence. Review of previous reports describing patients with comparable microduplications allowed for a more precise delineation of the condition and widening of the phenotypic spectrum.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:02:21Z