Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

Détails

ID Serval
serval:BIB_6E7FBE52A360
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
Périodique
Journal of medical genetics
Auteur(s)
Bhuiyan Z.A., Klein M., Hammond P., van Haeringen A., Mannens M.M., Van Berckelaer-Onnes I., Hennekam R.C.
ISSN
1468-6244 (Electronic)
ISSN-L
0022-2593
Statut éditorial
Publié
Date de publication
07/2006
Peer-reviewed
Oui
Volume
43
Numéro
7
Pages
568-575
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterised by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioural problems, and malformations of the upper extremities. Recently mutations in NIPBL, the human homologue of the Drosophila Nipped-B gene, were found to cause CdLS. Mutations have been found in 39% of reported cases.
Patients were enrolled in the study and classified into one of four groups based on clinical examination: classic, mild, possible, or definitively not CdLS. Three dimensional photography was taken of 20 subjects, and compared between groups. Behaviour was assessed with specific attention to autism. We searched for mutations in NIPBL and correlated genotype with phenotype.
: We found mutations in 56% of cases.
Truncating mutations were generally found to cause a more severe phenotype but this correlation was not absolute. Three dimensional facial imaging demonstrated the potential for classifying facial features. Behavioural problems were highly correlated with the level of adaptive functioning, and also included autism. No correlation of behaviour with the type of mutation was found.

Mots-clé
Autistic Disorder/genetics, Birth Weight, De Lange Syndrome/diagnosis, De Lange Syndrome/genetics, De Lange Syndrome/psychology, Diagnosis, Differential, Facial Expression, Female, Genotype, Growth Disorders/embryology, Humans, Infant, Newborn, Male, Mutation, Netherlands, Phenotype, Proteins/genetics, Social Support
Pubmed
Web of science
Création de la notice
01/03/2018 15:39
Dernière modification de la notice
27/09/2021 10:16
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