A new syndrome in an inbred Saudi Arabian family has been identified. The most prominent feature is a failure of closure of the fontanels and sutures; and at birth, the anterior fontanel is large due to open sagittal and metopic sutures. The second major feature is posterior Y-shaped sutural cataracts that are congenital or develop over time. A genome-wide screen was performed using 387 markers at the Center for Inherited Disease Research (CIDR) on 21 DNA samples. Model-independent and model-dependent analyses were carried out using S.A.G.E. and LINKAGE. Sib-pair analysis results indicated evidence for linkage on several chromosomes. Analysis of flanking markers on these regions point to evidence for a genetic locus on one chromosome. Efforts to fine map the gene have been completed, with a single candidate region identified, although the region identified is greater than 20 cM. A search for candidate loci is underway and tests for association will be used in an attempt to narrow the region and then to subsequently clone the gene.
| Boyadjiev, Simeon A; Justice, Cristina M; Eyaid, Wafaa et al. (2003) A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet 113:1-9 |
