Titre :

Wiedemann-steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 french cases

Auteur(s) :

Baer, S. [Auteur]
Afenjar, A. [Auteur]
Smol, Thomas [Auteur]
Piton, Amelie [Auteur]
Gerard, Benedicte [Auteur]
Alembik, Yves [Auteur]
Bienvenu, Thierry [Auteur]
Boursier, Guilaine [Auteur]
Boute, Odile [Auteur]
Colson, Cindy [Auteur]
Cordier, M.-P. [Auteur]
Cormier-Daire, Valerie [Auteur]
Delobel, Bruno [Auteur]
Doco-Fenzy, Martine [Auteur]
Duban-Bedu, Benedicte [Auteur]
Fradin, M. [Auteur]
Genevieve, David [Auteur]
Goldenberg, Alice [Auteur]
Grelet, M. [Auteur]
Haye, Damien [Auteur]
Heron, D. [Auteur]
Isidor, B. [Auteur]
Keren, Boris [Auteur]
Lacombe, Didier [Auteur]
Lebre, A.-S. [Auteur]
Lesca, Gaetan [Auteur]
Masurel, Alice [Auteur]
Mathieu-Dramard, Michele [Auteur]
Nava, C. [Auteur]
Pasquier, Laurent [Auteur]
Petit, A. [Auteur]
Philip, Nicole [Auteur]
Piard, J. [Auteur]
Rondeau, Sophie [Auteur]
Saugier-Veber, Pascale [Auteur]
Sukno, S. [Auteur]
Thevenon, Julien [Auteur]
Van-Gils, Julien [Auteur]
Vincent, Catherine [Auteur]
Willems, M. [Auteur]
Schaefer, Elise [Auteur]
Morin, Gilles [Auteur]

Titre de la revue :

Clinical Genetics

Nom court de la revue :

Clin. Genet.

Date de publication :

2018-03-25

ISSN :

1399-0004

Mot(s)-clé(s) :

intellectual disability
hairiness
histone methylation
hypertrichosis
KMT2A
Wiedemann-Steiner syndrome

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the ...
Lire la suite >Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 families and mosaicism in one family. Clinically, we observed a broad phenotypic spectrum with regard to ID (mild to severe), the facies (typical or not of WSS) and associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than KMT2A is a major gene in ID.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Université de Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Date de dépôt :

2021-09-02T07:01:49Z