Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion

J Med Genet. 2001 Jan;38(1):35-8. doi: 10.1136/jmg.38.1.35.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Albinism, Oculocutaneous / genetics*
  • Albinism, Oculocutaneous / pathology
  • Base Sequence
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 11 / genetics*
  • Contig Mapping
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukodystrophy, Metachromatic / genetics*
  • Leukodystrophy, Metachromatic / pathology
  • Male
  • Microsatellite Repeats
  • Monophenol Monooxygenase / genetics
  • Sequence Deletion
  • Sequence Homology, Nucleic Acid

Substances

  • DNA
  • Monophenol Monooxygenase