View abstract

Cet abstract a été assigné à session Poster session in O'Bistro
TitreCryptic chromosomal deletions and duplications as a cause of congenital eye malformations
ButCongenital 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.
MéthodesWe 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.
RésultatsWe 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.
ConclusionOur 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
NomBALIKOVA
InitialesI
InstitutDepartement of Ophthalmology CHU St Pierre
VilleBrussels
Auteur 2
NomDE RAVEL
InitialesT
InstitutCentre for Human Genetics
VilleLeuven
Auteur 3
NomAyuso
InitialesC
InstitutFundación Jyménes Díaz
VilleMadrid, Spain
Auteur 4
NomCasteels
InitialesI
InstitutDepartment of Ophthalmology
VilleLeuven
Auteur 5
NomFryns
InitialesJP
InstitutCentre for Human Genetics
VilleLeuven
Auteur 6
NomVermeesch
InitialesJR
InstitutCentre for Human Genetics
VilleLeuven
top ^