title: Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.
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.
authors.affiliation: Laboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076 Bordeaux Cedex, France. Isabelle.coupry@pmtg.u-bordeaux2.fr
authors.forename: I
authors.initials: I
authors.lastname: Coupry
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: C
authors.initials: C
authors.lastname: Goizet
authors.forename: C
authors.initials: C
authors.lastname: Soriano
authors.forename: B
authors.initials: B
authors.lastname: Mortemousque
authors.forename: B
authors.initials: B
authors.lastname: Arveiler
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
mesh_terms: D000293:Adolescent; D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D020451:Contig Mapping; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000473:pathology; D008297:Male; D018895:Microsatellite Repeats; D014442:Monophenol Monooxygenase / Q000235:genetics; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid
chemical_list: D004247:DNA; D014442:Monophenol Monooxygenase