Abstract bekijken

Deze abstract is toegekend aan sessie BGS: Belgian Glaucoma Society
TitelFRO: Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2.
DoelPrimary congenital glaucoma (PCG) is caused by developmental anomalies of the trabecular meshwork and the anterior chamber angle, resulting in an increased ocular pressure (IOP) and optic nerve damage from birth or early infancy. The prevalence of PCG is estimated to be 1:10.000 in Western populations with higher prevalences in inbred populations. In general PCG displays an autosomal recessive inheritance and is genetically heterogeneous. To date, four PCG loci are known (GLC3A-D), in which two genes have been identified, CYP1B1 and LTBP2. Here, we aimed to map the disease gene in a large, four-generation consanguineous family with PCG, originating from Jordany.
MethodesMutations in and linkage to the known PCG genes CYP1B1 and LTBP2 were excluded respectively. Homozygosity or identity-by-descent (IBD) mapping was performed in six affected members using genomewide SNP genotyping with 250K arrays (Affymetrix), followed by data analysis with a homemade Perl script.
ResultatenThe identified IBD regions did not overlap with any known PCG loci. Filtering on both size of the region and number of consecutive homozygous SNPs revealed a new candidate region on 19p13.2, named GLC3E. This region measures 1,8 Mb and contains 57 genes. Targeted resequencing of this region is ongoing.
ConclusieWe identified a new PCG locus, named GLC3E, confirming the genetic heterogeneity of PCG, and representing a unique opportunity to identify the third PCG gene.
Auteur 1
NaamVERDIN
InitialenH
InstituutCMGG, Ghent University
StadGhent
Auteur 2
NaamD'Haene
InitialenB
InstituutCMGG, Ghent University
StadGhent
Auteur 3
NaamCoppieters
InitialenF
InstituutCMGG, Ghent University
StadGhent
Auteur 4
NaamLefever
InitialenS
InstituutCMGG, Ghent University
StadGhent
Auteur 5
NaamKestelyn
InitialenP
InstituutDept of Ophthalmology, Ghent University Hospital
StadGhent
Auteur 6
NaamLeroy
InitialenB
InstituutDept of Ophthalmology, Ghent University Hospital
StadGhent
Auteur 7
NaamDe Baere
InitialenE
InstituutCMGG, Ghent University
StadGhent
top ^