Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.
J Med Genet
; 44(12): 800-8, 2007 Dec.
Article
de En
| MEDLINE
| ID: mdl-18055911
ABSTRACT
To estimate the contribution of single and multi-exon NF1 gene copy-number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients with neurofibromatosis type 1 (NF1). Of these, 138 had previously been found, using denaturing high-performance liquid chromatography or protein truncation test, to be heterozygous for intragenic NF1 point mutations/deletions/insertions, and were excluded from this analysis. The remaining 63 patients were analysed using multiplex ligation-dependent probe amplification (MLPA), which allows detection of deletions or duplications encompassing >or=1 NF1 exons, as well as entire gene deletions. MLPA results were validated using real-time quantitative PCR (qPCR) or fluorescent in situ hybridisation. MLPA screening followed by real-time qPCR detected a total of 23 deletions. Of these deletions, six were single exon, eight were multi-exon, and nine were of the entire NF1 gene. In our series, deletions encompassing >or=1 NF1 exons accounted for approximately 7% (14/201) of the NF1 gene mutation spectrum, suggesting that screening for these should now be systematically included in genetic testing of patients with NF1.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Exons
/
Gènes nf1
/
Neurofibromatose de type 1
/
Délétion de gène
/
Dosage génique
Type d'étude:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limites:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
Pays/Région comme sujet:
Europa
Langue:
En
Journal:
J Med Genet
Année:
2007
Type de document:
Article
Pays d'affiliation:
Italie