A heterozygous microdeletion of 20q13. 13 ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
A heterozygous microdeletion of 20q13. 13 encompassing adnp gene in a child with helsmoortel-van der aa syndrome
Auteur(s) :
Huynh, Minh-Tuan [Auteur]
Boudry-Labis, Elise [Auteur]
Massard, Alfred [Auteur]
Thuillier, Caroline [Auteur]
Delobel, Bruno [Auteur]
Duban-Bedu, Benedicte [Auteur]
Vincent, Catherine [Auteur]
Boudry-Labis, Elise [Auteur]
Massard, Alfred [Auteur]
Thuillier, Caroline [Auteur]
Delobel, Bruno [Auteur]
Duban-Bedu, Benedicte [Auteur]
Vincent, Catherine [Auteur]
Titre de la revue :
European journal of human genetics . EJHG
Nom court de la revue :
Eur. J. Hum. Genet.
Date de publication :
2018-06-13
ISSN :
1476-5438
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report ...
Lire la suite >Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report the first case of a 3 years and 10 months old boy exhibiting typical features of ADNP syndrome, including intellectual disability, autistic traits, facial dysmorphism, hyperlaxity, mood disorder, behavioral problems, and severe chronic constipation. 60K Agilent array-comparative genomic hybridization (CGH) identified a heterozygous interstitial microdeletion at 20q13.13 chromosome region, encompassing ADNP and DPM1. Taking into account the clinical phenotype of previously reported cases with ADNP single-point variants, genotype-phenotype correlation in the proband was established and the diagnosis of Helsmoortel-van der Aa syndrome was made. Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der Aa syndrome as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained intellectual disability and/or syndromic autism.Lire moins >
Lire la suite >Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report the first case of a 3 years and 10 months old boy exhibiting typical features of ADNP syndrome, including intellectual disability, autistic traits, facial dysmorphism, hyperlaxity, mood disorder, behavioral problems, and severe chronic constipation. 60K Agilent array-comparative genomic hybridization (CGH) identified a heterozygous interstitial microdeletion at 20q13.13 chromosome region, encompassing ADNP and DPM1. Taking into account the clinical phenotype of previously reported cases with ADNP single-point variants, genotype-phenotype correlation in the proband was established and the diagnosis of Helsmoortel-van der Aa syndrome was made. Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der Aa syndrome as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained intellectual disability and/or syndromic autism.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:01:17Z