Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR (ital), in Stargardt disease

Article Abstract:

Direct DNA sequencing and mutation scanning of the 50 exons of ABCR, a phtoreceptor-specific ATP-binding cassette transporter gene, have been done for 150 families segregating recessive Stargardt disease (STGD1), likely the most common hereditary recessive macular dystrophy. It has juvenile-to-early-adult onset. ABCR variations were seen in 57% of the disease chromosomes. More than half were missense amino acid substitutions. High frequency of age-related macular degeneration (AMD) was in first- and second-degree relatives. The ABCR variants were not seen in 220 unaffected people, but they cosegregate with the disease in the STGD1 families, many in conserved functional domains. It seems that compound heterozygous ABCR mutations are behind STGD1 and that some heterozygous ABCR mutations may increase susceptibility for AMD. Earlier onset seems to be associated with missense amino acid substitutions in the amino terminal third of the protein and may come from misfolding alleles.

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Mutations in CYP1B1, the gene for cytochrome P4501, are the predominant cause of primary congenital glaucoma in Saudi Arabia

Article Abstract:

Mutations in the gene for cytochrome P4501B1 known as CYP1B1 are the main cause for primary congenital glaucoma in Saudi Arabia. Primary congenital glaucoma (PCG), an autosomal recessive disorder, is caused by developmental defect/defects of the anterior chamber angle and trabecular meshwork of the eye. In 3 large consanguineous Saudi PCG families, homozygosity mapping with a DNA pooling strategy identified the GLC3A locus on chromosome 2p21 in a region closely linked to PCG in another population. Significant linkage to polymorphic markers in the region and incomplete penetrance were found, although evidence of genetic heterogeneity was not found. The environmental and genetic events that affect what CYP1B1 mutations do to ocular development should be studied.

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Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and delineation of dosage-sensitive critical interval that can convey an autism phenotype

Article Abstract:

The molecular assays of 35 subjects with dup(17)(p11.2p11.2) are reported. Phenotypic characterization of this microduplication syndrome shows mental retardation, autistic features and structural cardiovascular anomalies.

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