Literature DB >> 1577471

Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency.

T Imai1, T Yanase, M R Waterman, E R Simpson, J J Pratt.   

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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Year:  1992        PMID: 1577471     DOI: 10.1007/bf00207050

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  13 in total

Review 1.  17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.

Authors:  T Yanase; E R Simpson; M R Waterman
Journal:  Endocr Rev       Date:  1991-02       Impact factor: 19.871

2.  Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.

Authors:  K Kagimoto; M R Waterman; M Kagimoto; P Ferreira; E R Simpson; J S Winter
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

3.  Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.

Authors:  D Owerbach; Y M Crawford; M B Draznin
Journal:  Mol Endocrinol       Date:  1990-01

4.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

5.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors:  U B Gyllensten; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

6.  17-hydroxylation deficiency in man.

Authors:  E G Biglieri; M A Herron; N Brust
Journal:  J Clin Invest       Date:  1966-12       Impact factor: 14.808

7.  Primary amenorrhoea with hypertension due to 17-hydroxylase deficiency. Therapy with dexamethasone and ethinyloestradiol.

Authors:  W E de Lange; A Weeke; W Artz; W Jansen; H Doorenbos
Journal:  Acta Med Scand       Date:  1973-06

8.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

9.  Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.

Authors:  J S Winter; R M Couch; J Muller; Y S Perry; P Ferreira; L Baydala; C H Shackleton
Journal:  J Clin Endocrinol Metab       Date:  1989-02       Impact factor: 5.958

Review 10.  The P450 superfamily: update on new sequences, gene mapping, and recommended nomenclature.

Authors:  D W Nebert; D R Nelson; M J Coon; R W Estabrook; R Feyereisen; Y Fujii-Kuriyama; F J Gonzalez; F P Guengerich; I C Gunsalus; E F Johnson
Journal:  DNA Cell Biol       Date:  1991 Jan-Feb       Impact factor: 3.311

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  11 in total

Review 1.  Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.

Authors:  Richard J Auchus
Journal:  J Steroid Biochem Mol Biol       Date:  2016-02-06       Impact factor: 4.292

Review 2.  The next 150 years of congenital adrenal hyperplasia.

Authors:  Adina F Turcu; Richard J Auchus
Journal:  J Steroid Biochem Mol Biol       Date:  2015-06-03       Impact factor: 4.292

Review 3.  The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.

Authors:  Walter L Miller; Richard J Auchus
Journal:  Endocr Rev       Date:  2010-11-04       Impact factor: 19.871

4.  A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.

Authors:  P Rump; H H Lemmink; C C Verschuuren-Bemelmans; P M Grootscholten; J M Fock; S J Hayflick; S K Westaway; Y J Vos; A J van Essen
Journal:  Neurogenetics       Date:  2005-10-21       Impact factor: 2.660

Review 5.  Adrenal androgens and androgen precursors-definition, synthesis, regulation and physiologic actions.

Authors:  Adina Turcu; Joshua M Smith; Richard Auchus; William E Rainey
Journal:  Compr Physiol       Date:  2014-10       Impact factor: 9.090

6.  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.

Authors:  Nayelli Nájera; Nayely Garibay; Yadira Pastrana; Icela Palma; Yolanda-Rocio Peña; Javier Pérez; Ninel Coyote; Alberto Hidalgo; Susana Kofman-Alfaro; Gloria Queipo
Journal:  Endocr Pathol       Date:  2009       Impact factor: 3.943

7.  A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

Authors:  Yne de Vries; Nikki Lwiwski; Marieke Levitus; Bertus Kuyt; Sara J Israels; Fré Arwert; Michel Zwaan; Cheryl R Greenberg; Blanche P Alter; Hans Joenje; Hanne Meijers-Heijboer
Journal:  Anemia       Date:  2012-06-04

Review 8.  Genetics of congenital adrenal hyperplasia.

Authors:  Nils Krone; Wiebke Arlt
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2009-04       Impact factor: 4.690

Review 9.  Genes for blood pressure: an opportunity to understand hypertension.

Authors:  Georg B Ehret; Mark J Caulfield
Journal:  Eur Heart J       Date:  2013-01-09       Impact factor: 29.983

10.  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.

Authors:  Núria Camats; Ala Üstyol; Mehmet Emre Atabek; Bernhard Dick; Christa E Flück
Journal:  Clin Case Rep       Date:  2015-08-26
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