ArticleAmerican journal of human genetics2000
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 93 citations in OpenAlex.
- On the ocular findings in ochronosis: a systematic review of literature.BMC ophthalmology · 2014Pooled it
- Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.RMD open · 2022Trial
- Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.Journal of inherited metabolic disease · 2003Trial
- Alkaptonuria and Cervical Disc Herniation: Case Report.International journal of spine surgery · 2025Article
- Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report.Cureus · 2025Article
- Treatment of Ochronotic Osteoarthropathy and the Evaluation of Selected Lower Limb Muscle Properties, Including the Patellar Tendon: A Case Report and Mini Literature Review.Journal of clinical medicine · 2025Article
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- A Previously Undiagnosed Case of Alkaptonuria in an 80-Year-Old Patient: A Case Report.Cureus · 2023Article
- A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.Scientific reports · 2022Article
- Ochronotic hip arthropathy - A case report.Journal of orthopaedic case reports · 2022Article
- Total knee arthroplasty and physical therapy for arthropathy in alkaptonuria: A 4-year follow-up case report.Frontiers in surgery · 2022Article
- Alkaptonuria with rapidly destructive arthropathy of the hip: A case report and literature review.Acta orthopaedica et traumatologica turcica · 2021Review
- A novel deep intronic variant strongly associates with Alkaptonuria.NPJ genomic medicine · 2021Article
- Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.BioMed research international · 2021Article
- Intraoperative Diagnosis of a Rare Case of Arthropathy - A Case Report and Review of Literature.Journal of orthopaedic case reports · 2020Article
- Cervical Myelopathy Due to Ochronosis: An Intraoperative Suspicion.The American journal of case reports · 2020Article
- Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.Clinical rheumatology · 2020Article
- Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.Acta orthopaedica et traumatologica turcica · 2016Article
- Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka.Indian journal of clinical biochemistry : IJCB · 2016Article
- Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.European journal of human genetics : EJHG · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence (1:100,000-250,000) in most ethnic groups. One notable exception is in Slovakia, where the incidence of AKU rises to 1:19,000. This high incidence is difficult to explain by a classical founder effect, because as many as 10 different AKU mutations have been identified in this relatively small country. We have determined the allelic associations of 11 HGO intragenic polymorphisms for 44 AKU chromosomes from 20 Slovak pedigrees. These data were compared to the HGO haplotype data available in our laboratory for >80 AKU chromosomes from different European and non-European countries. The results show that common European AKU chromosomes have had only a marginal contribution to the Slovak AKU gene pool. Six of the ten Slovak AKU mutations, including the prevalent G152fs, G161R, G270R, and P370fs mutations, most likely originated in Slovakia. Data available for 17 Slovak AKU pedigrees indicate that most of the AKU chromosomes have their origins in a single very small region in the Carpathian mountains, in the northwestern part of the country. Since all six Slovak AKU mutations are associated with HGO mutational hot spots, we suggest that an increased mutation rate at the HGO gene is responsible for the clustering of AKU mutations in such a small geographical region.
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