Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

Détails

ID Serval
serval:BIB_AE9A3A0EBEFA
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.
Périodique
Journal of Medical Genetics
Auteur⸱e⸱s
Howald C., Merla G., Digilio M.C., Amenta S., Lyle R., Deutsch S., Choudhury U., Bottani A., Antonarakis S.E., Fryssira H., Dallapiccola B., Reymond A.
ISSN
1468-6244[electronic], 0022-2593[linking]
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
43
Numéro
3
Pages
266-273
Langue
anglais
Résumé
OBJECTIVE: To develop and compare two new technologies for diagnosing a contiguous gene syndrome, the Williams-Beuren syndrome (WBS). METHODS: The first proposed method, named paralogous sequence quantification (PSQ), is based on the use of paralogous sequences located on different chromosomes and quantification of specific mismatches present at these loci using pyrosequencing technology. The second exploits quantitative real time polymerase chain reaction (QPCR) to assess the relative quantity of an analysed locus. RESULTS: A correct and unambiguous diagnosis was obtained for 100% of the analysed samples with either technique (n = 165 and n = 155, respectively). These methods allowed the identification of two patients with atypical deletions in a cohort of 182 WBS patients. Both patients presented with mild facial anomalies, mild mental retardation with impaired visuospatial cognition, supravalvar aortic stenosis, and normal growth indices. These observations are consistent with the involvement of GTF2IRD1 or GTF2I in some of the WBS facial features. CONCLUSIONS: Both PSQ and QPCR are robust, easy to interpret, and simple to set up. They represent a competitive alternative for the diagnosis of segmental aneuploidies in clinical laboratories. They have advantages over fluorescence in situ hybridisation or microsatellites/SNP genotyping for detecting short segmental aneuploidies as the former is costly and labour intensive while the latter depends on the informativeness of the polymorphisms.
Mots-clé
Aneuploidy, Diagnosis, Differential, Humans, In Situ Hybridization, Fluorescence, Polymerase Chain Reaction, Polymorphism, Genetic, Sequence Deletion, Williams Syndrome/classification, Williams Syndrome/diagnosis
Pubmed
Web of science
Création de la notice
24/01/2008 16:52
Dernière modification de la notice
20/08/2019 16:18
Données d'usage