A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency

作者：Monno S; Mizushima Y; Toyoda N; Kashii T; Kobayashi M

来源：Annals of Human Genetics, 1997, 61(3): 275-279.

DOI：10.1046/j.1469-1809.1997.6130275.x

A new CYP17 gene abnormality was found in three Japanese patients with 17 alpha-hydroxylase deficiency (17OHD). These patients were children from consanguineous marriages, but from two apparently unrelated families: one patient with 46, XY karyotype, and two siblings with 46, XX and 46: XY karyotypes. They were all raised as girls and presented with amenorrhea, eunuchoid appearance and hypertension. Gene analysis revealed two base-pair (TG) deletion in exon 5 (codons 300? 301) of the CYP17 gene. This deletion could be expected to alter the reading frame resulting in the lack of a haem-binding region (Cys 442) due to a premature stop codon at position 333. This small mutation may account for the patients' clinical manifestations of 17OHD.

• 出版日期1997-5