title: [Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].
abstract: Primary congenital glaucoma was diagnosed in a son (born in 2009) of a healthy, non-consanguineous Roma couple. This couple terminated their next two pregnancies because of the 25% recurrence risk of this autosomal recessive ophthalmological abnormality. Molecular genetic analysis showed the homozygote E387K mutation of the CYP1B1 gene in the proband and the presence of this gene mutation in heterozygous form in both parents. This gene mutation is characteristic for Slovakian Roma population. There are two objectives of this case report. On one hand this finding indicates the genetic relationship of Slovakian and Hungarian Romas. On the other hand, the couple plans to have further pregnancies, and prenatal genetic test may help to assess the possible recurrence risk of this hereditary disease.
authors.affiliation: Magyar Honvédség Egészségügyi Központ Szemészeti Osztály Budapest Podmaniczky u. 111. 1062.
authors.forename: Gábor
authors.initials: G
authors.lastname: Vogt
authors.affiliation: Institute of Molecular Physiology and Genetics Bratislava Szlovákia Comenius University Faculty of Natural Sciences Bratislava Szlovákia.
authors.forename: Ľudevit Lajos
authors.initials: ĽL
authors.lastname: Kádasi
authors.affiliation: "Genetikai Ártalmak Társadalmi Megelőzése" Alapítvány Genetikai Tanácsadó Budapest.
authors.forename: Endre
authors.initials: E
authors.lastname: Czeizel
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D002675:Child, Preschool; D065633:Cytochrome P-450 CYP1B1; D005817:Genetic Counseling; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics*; D018698:Glutamic Acid; D006801:Humans; D006814:Hungary; D008239:Lysine; D008297:Male; D009154:Mutation; D006178:Romani People; D018154:Slovakia
chemical_list: D018698:Glutamic Acid; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1; D008239:Lysine
keywords: E387K gene mutation; E387K génmutáció; Roma population; genetic counselling; genetikai tanácsadás; primary congenital glaucoma; primer congenitalis glaucoma; roma származás