NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

Détails

ID Serval
serval:BIB_432EFD389622
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
Périodique
European Journal of Human Genetics
Auteur(s)
Grisart B., Rack K., Vidrequin S., Hilbert P., Deltenre P., Verellen-Dumoulin C., Destrée A.
ISSN
1018-4813 (Print)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
2008
Volume
16
Numéro
3
Pages
305-311
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Résumé
NF1 microdeletion syndrome is a common dominant genomic disorder responsible for around 5% of type I neurofibromatosis cases. The majority of cases are caused by mutations arising within the NF1 gene. NF1 microdeletion carriers present a more severe phenotype than patients with intragenic mutations, including mental retardation, cardiac anomalies and dysmorphic features. Here, we report on two brothers with mental retardation presenting a microduplication of the NF1 microdeletion syndrome region detected by array-CGH analysis. Main phenotypic features are mental deficiency, early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism. The breakpoint regions coincide with the repeats, and the recombination hot spots shown to mediate NF1 microdeletion through NAHR. A screening of the patients' familial relatives showed that this microduplication segregates in the family for at least two generations. This result demonstrates that both deletion and duplication of the NF1 region, at cytogenetic band 17q11.2, give rise to viable gametes, even if only NF1 microdeletions have been reported until now. Our study reports seven cases of NF1 microduplication within one family. Similar phenotypic abnormalities were present in most of the individuals, however, two displayed a normal phenotype, suggesting a potential incomplete penetrance of the phenotype associated with NF1 microduplication.
Mots-clé
Adult, Alopecia/genetics, Chromosomes, Human, Pair 17, Dental Enamel Hypoplasia/genetics, Female, Gene Duplication, Genes, Neurofibromatosis 1, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/genetics, Male, Oligonucleotide Array Sequence Analysis, Pedigree, Phenotype
Pubmed
Web of science
Open Access
Oui
Création de la notice
06/12/2013 11:19
Dernière modification de la notice
08/05/2019 17:46
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