PT  - JOURNAL ARTICLE
AU  - Isabelle Coupry
AU  - Laurence Taine
AU  - Cyril Goizet
AU  - Carine Soriano
AU  - Bruno Mortemousque
AU  - Benoît Arveiler
AU  - Didier Lacombe
TI  - Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
AID  - 10.1136/jmg.38.1.35
DP  - 2001 Jan 01
TA  - Journal of Medical Genetics
PG  - 35--38
VI  - 38
IP  - 1
4099  - http://jmg.bmj.com/content/38/1/35.short
4100  - http://jmg.bmj.com/content/38/1/35.full
SO  - J Med Genet2001 Jan 01; 38
AB  - 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.