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Deze abstract is toegekend aan sessie Poster session in O'Bistro
TitelCryptic chromosomal deletions and duplications as a cause of congenital eye malformations
DoelCongenital ocular malformations (COM) are a frequent cause of childhood blindness. Mutations in a variety of genes known to be involved in the development of the eye can underlie COM. However, a large number of patients remains without a molecular diagnosis. Large chromosomal aberrations such as trisomies 13 and 18 are known to cause a variety of eye anomalies, such as microphtalmia, anophtalmia and coloboma. Such large aberrations are cytogenetically detectable using metaphase chromosome spreads. The purpose of the current study was to investigate the role of smaller chromosomal deletions and duplications in the etiology of COM.
MethodesWe applied Agilent 244K oligoarray copy number profiling platform for the analysis of patients with various idiopathic COM. The resolution of this platform is 100-fold higher than what can be achieved using metaphase spreads.
ResultatenWe analyzed 38 patients and identified causal deletions in 5 patients (13%). Most of these deletions affected known genes (OTX2, PAX6, FOXC1 and COH1) but were found in patients with atypical presentations, thus broadening the phenotypic spectrum associated with mutations in these genes. Deletions were not enriched in any class of COM.
ConclusieOur findings clearly demonstrate that hitherto cryptic deletions and duplications contribute to the etiology of a variety of ocular developmental defects, and that diagnostic methods allowing high resolution analysis of chromosomal copy number changes improve the diagnosis of the patients with congenital eye anomalies.
Auteur 1
NaamBALIKOVA
InitialenI
InstituutDepartement of Ophthalmology CHU St Pierre
StadBrussels
Auteur 2
NaamDE RAVEL
InitialenT
InstituutCentre for Human Genetics
StadLeuven
Auteur 3
NaamAyuso
InitialenC
InstituutFundación Jyménes Díaz
StadMadrid, Spain
Auteur 4
NaamCasteels
InitialenI
InstituutDepartment of Ophthalmology
StadLeuven
Auteur 5
NaamFryns
InitialenJP
InstituutCentre for Human Genetics
StadLeuven
Auteur 6
NaamVermeesch
InitialenJR
InstituutCentre for Human Genetics
StadLeuven
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