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Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
  1. Isabelle Couprya,
  2. Laurence Tainea,b,
  3. Cyril Goizeta,b,
  4. Carine Sorianoa,
  5. Bruno Mortemousquec,
  6. Benoît Arveilera,b,
  7. Didier Lacombea,b
  1. aLaboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076 Bordeaux Cedex, France, bService de Génétique Médicale, CHU Bordeaux, France, cService d'Ophtalmologie, CHU Bordeaux, France
  1. Dr Coupry, Isabelle.coupry{at}pmtg.u-bordeaux2.fr

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 theTYR 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.

  • leucodystrophy
  • oculocutaneous albinism
  • 11q14 deletion
  • physical mapping

https://doi.org/10.1136/jmg.38.1.35

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