Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years

Kálmán Tóth, Zsuzsanna Kiss-Láaszló, Endre Lénárt, Katalin Juhász, Katalin Takács, Tamas Bender, Janos Szabó

Research output: Article

5 Citations (Scopus)

Abstract

Authors trace an ochronotic Hungarian family, which moved from Slovakia to Hungary 300 years ago. As the family members lived in a relatively close village community the gene mutation had been survived silently for ages before the clinical symptoms developed. Family tree analysis could detect with the use of allele specific PCR amplification-the p.G161R mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene, which resulted in a specific genotype appearing in the Slovak population. We found a heterozygote member of this family who has children with an alkaptonuria-homozygote and known-heterozygote genotypes so there would be a high risk of alkaptonuria in their offsprings. Therefore genetic counselling is highly recommended to minimize the risk factors.

Original languageEnglish
Pages (from-to)355-357
Number of pages3
JournalJoint Bone Spine
Volume77
Issue number4
DOIs
Publication statusPublished - júl. 1 2010

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ASJC Scopus subject areas

  • Rheumatology

Cite this

Tóth, K., Kiss-Láaszló, Z., Lénárt, E., Juhász, K., Takács, K., Bender, T., & Szabó, J. (2010). Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years. Joint Bone Spine, 77(4), 355-357. https://doi.org/10.1016/j.jbspin.2010.03.007