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

Published online by Cambridge University Press:  01 May 1997

S. MONNO ,
Y. MIZUSHIMA ,
N. TOYODA ,
T. KASHII  and
M. KOBAYASHI
S. MONNO
Affiliation:
First Department of Internal Medicine, Toyama Medical and Pharmaceutical University, Toyama 930-01, Japan
Y. MIZUSHIMA
Affiliation:
First Department of Internal Medicine, Toyama Medical and Pharmaceutical University, Toyama 930-01, Japan
N. TOYODA
Affiliation:
Department of Obstetrics and Gynecology, Faculty of Medicine, Mie University, Mie 514, Japan
T. KASHII
Affiliation:
First Department of Internal Medicine, Toyama Medical and Pharmaceutical University, Toyama 930-01, Japan
M. KOBAYASHI
Affiliation:
First Department of Internal Medicine, Toyama Medical and Pharmaceutical University, Toyama 930-01, Japan
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Abstract

A new CYP17 gene abnormality was found in three Japanese patients with 17α-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.

Type
Brief Report
Information
Annals of Human Genetics , Volume 61 , Issue 3 , May 1997 , pp. 275 - 279
Copyright
© University College London 1997

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