Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.
Journal of Medical Genetics. 2001-01-01; 38(1): 35-38
DOI: 10.1136/jmg.38.1.35
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1. J Med Genet. 2001 Jan;38(1):35-8.
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.
Coupry I(1), Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D.
Author information:
(1)Laboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor
Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076 Bordeaux Cedex, France.
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.
DOI: 10.1136/jmg.38.1.35
PMCID: PMC1734723
PMID: 11134238 [Indexed for MEDLINE]