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Abstract #58921 Published in IGR 16-3
Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report
Vogt G; Kádasi ĽL; Czeizel EOrvosi Hetilap 2014; 155: 1325-1328
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.
Magyar Honvédség Egészségügyi Központ Szemészeti Osztály Budapest Podmaniczky u. 111. 1062.
Full articleClassification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
