Canadian mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17α-hydroxylase deficiency

• Published in: Human genetics 1992-04, Vol.89 (1), p.95-96
• Main Authors: IMAI, T, YANASE, T, WATERMAN, M. R, SIMPSON, E. R, PRATT, J. J
• Format: Article
• Language: English
• Subjects: Adrenal Hyperplasia, Congenital - enzymology; Adrenal Hyperplasia, Congenital - genetics; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); Base Sequence; Biological and medical sciences; Canada; CYP17 gene; deficiency; duplication; Endocrinopathies; Female; genes; Humans; Male; man; Medical sciences; Molecular Sequence Data; Mutation - genetics; Netherlands; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Polymerase Chain Reaction; Repetitive Sequences, Nucleic Acid - genetics; steroid 17 alpha -monooxygenase; Steroid 17-alpha-Hydroxylase - genetics
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/BF00207050

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.