Alternative titles; symbols
ORPHA: 98976;
Cytogenetic location: 1p36.2-p36.1 Genomic coordinates (GRCh38): 1:7,100,001-27,600,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 1p36.2-p36.1 | Glaucoma 3, primary infantile, B | 600975 | Autosomal recessive | 2 |
For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (231300).
Sarfarazi et al. (1995) mapped a locus for primary congenital glaucoma (designated GLC3A; 231300) to 2p21. Six of 17 families, however, failed to show linkage to the 2p21 region. Akarsu et al. (1996) studied 8 families with primary congenital glaucoma unlinked to chromosome 2p21 to search for the chromosomal location of a second GLC3 locus. They mapped the GLC3B locus to chromosome 1p36.2-p36.1 in a region situated centromeric to the neuroblastoma (256700) and Charcot-Marie-Tooth type 2A (118210) loci. Akarsu et al. (1996) reported that 4 of the families showed linkage to 1p36.2-1p36.1; the maximum 2-point lod score was 4.510 with the marker D1S2834. Pairwise and multipoint linkage analysis and haplotype inspection revealed that, in the remaining 4 families, GLC3 was not linked to this region of chromosome 1. Further linkage analysis in the families studied by Akarsu et al. (1996) provided information on the map order of loci in the 1p36.2-36.1 region.
Akarsu, A. N., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L, Sayli, B. S., Sarfarazi, M. A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum. Molec. Genet. 5: 1199-1203, 1996. [PubMed: 8842741] [Full Text: https://doi.org/10.1093/hmg/5.8.1199]
Sarfarazi, M., Akarsu, A. N., Hossain, A., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L., Sayli, B. S. Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30: 171-177, 1995. [PubMed: 8586416] [Full Text: https://doi.org/10.1006/geno.1995.9888]