ArticleHuman genetics1992
Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency.
Article in Human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 86 citations in OpenAlex.
- 17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.Journal of the Endocrine Society · 2022Article
- Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.The Journal of steroid biochemistry and molecular biology · 2017Review
- A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.Clinical case reports · 2015Article
- The next 150 years of congenital adrenal hyperplasia.The Journal of steroid biochemistry and molecular biology · 2015Review
- Adrenal androgens and androgen precursors-definition, synthesis, regulation and physiologic actions.Comprehensive Physiology · 2014Review
- Genes for blood pressure: an opportunity to understand hypertension.European heart journal · 2013Review
- Article
- The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.Endocrine reviews · 2011Review
- Genetics of congenital adrenal hyperplasia.Best practice & research. Clinical endocrinology & metabolism · 2009Review
- Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.Endocrine pathology · 2009Article
- A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.Neurogenetics · 2005Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A common mutation within the CYP17 gene that causes 17 alpha-hydroxylase deficiency, a form of congenital adrenal hyperplasia, has been found by direct sequencing of polymerase chain reaction (PCR) fragments of genomic DNA from six families residing in the Friesland region of the Netherlands. The mutation is a 4-base duplication within exon 8 of the CYP17 gene, which alters the reading frame encoding the C-terminal 26 amino acids of cytochrome P45017 alpha. This mutation has previously been found in two Canadian patients who are members of ostensibly unrelated Mennonite families. The Mennonite Churches derive their name from Menno Simons, an early leader of the sect in Friesland. Presumably this 4-base duplication appeared within the Friesian population prior to emigration of the Mennonites from the Netherlands.
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