A novel dysmorphic syndrome with late-closing fontanels and sutural cataracts (cranio-lenticulo-sutural dysplasia) has been identified in an inbred Saudi Arabian family. 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, and several candidate regions were identified. The genotyping of flanking markers to narrow these candidate regions has been completed as well. Two-point LOD score analysis assuming autosomal recessive inheritance suggested linkage to markers on chromosome 14q13-q21. Model-independent analysis using SIBPAL corroborated linkage to that same area. Haplotype analysis indicated that all affected individuals were homozygous for the interval between markers D14S306-ATA38D06, with two recombinants for D14S556 (centromeric) and one recombinant for D14S301 (telomeric). These recombinations limited the candidate gene locus to a region of approximately 7.2 Mb.
| 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 |
