Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.
case_report · Level V
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- Record sourced from PubMed, PMID 11134238.
- Also identified by PMC identifier 1734723.
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Abstract
We report a patient with an undetermined leucodystrophy associated with type 1A oculocutaneous albinism (OCA). Type 1 OCA results from recessive mutations in the tyrosinase gene (TYR) located in 11q14.3. The patient was found by FISH to carry a deletion of at least the first exon of the TYR gene on one chromosome and a (TG) deletion at codon 244/245 on the second chromosome. The existence of the microdeletion suggested that a gene responsible for leucodystrophy was located in the vicinity of the TYR gene. A combination of a test of hemizygosity and contig mapping studies allowed us to map the gene within a 0.6 cM region flanked by microsatellite markers D11S1780 and D11S931.
Medical subject headings
- Albinism, Oculocutaneous
- Chromosome Deletion
- Chromosomes, Human, Pair 11
- Leukodystrophy, Metachromatic