POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait

被引:27
作者
Adachi, M
Asakura, Y
Matsuo, M
Yamamoto, T
Hanaki, K
Arlt, W
机构
[1] Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, Japan
[2] Kanagawa Childrens Med Ctr, Dept Med Genet, Clin Res Inst, Yokohama, Kanagawa 2328555, Japan
[3] Tottori Univ, Fac Med, Dept Womens & Childrens Family Nursing, Tottori 680, Japan
[4] Univ Birmingham, Div Med Sci, Biomed Res Inst, Sch Med, Birmingham, W Midlands, England
基金
英国医学研究理事会;
关键词
D O I
10.1002/ajmg.a.31112
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学]; 090102 [作物遗传育种];
摘要
引用
收藏
页码:633 / 635
页数:3
相关论文
共 15 条
[1]
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome:: Apparent decreased activity of 17α-hydroxylase, 17,20-lyase and 21-hydroxylase [J].
Adachi, M ;
Asakura, Y ;
Tachibana, K ;
Shackleton, C .
PEDIATRICS INTERNATIONAL, 2004, 46 (05) :583-589
[2]
Compound heterozygous mutations of cytochrome p450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome [J].
Adachi, M ;
Tachibana, K ;
Asakura, Y ;
Yamamoto, T ;
Hanaki, K ;
Oka, A .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (04) :333-339
[3]
A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17α-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations [J].
Adachi, M ;
Tachibana, K ;
Asakura, Y ;
Suwa, S ;
Nishimura, G .
ENDOCRINE JOURNAL, 1999, 46 (02) :285-292
[4]
Aleck KA, 1997, AM J MED GENET, V72, P253, DOI 10.1002/(SICI)1096-8628(19971031)72:3&lt
[5]
253::AID-AJMG1&gt
[6]
3.0.CO
[7]
2-S
[8]
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study [J].
Arlt, W ;
Walker, EA ;
Draper, N ;
Ivison, HE ;
Ride, JP ;
Hammer, F ;
Chalder, SM ;
Borucka-Mankiewicz, M ;
Hauffa, BP ;
Malunowicz, EM ;
Stewart, PM ;
Shackleton, CHL .
LANCET, 2004, 363 (9427) :2128-2135
[9]
Antley-Bixler syndrome - Description of two new cases and a review of the literature [J].
Bottero, L ;
Cinalli, G ;
Labrune, P ;
Lajeunie, E ;
Renier, D .
CHILDS NERVOUS SYSTEM, 1997, 13 (05) :275-280
[10]
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome [J].
Flück, CE ;
Tajima, T ;
Pandey, AV ;
Arlt, W ;
Okuhara, K ;
Verge, CF ;
Jabs, EW ;
Mendonça, BB ;
Fujieda, K ;
Miller, WL .
NATURE GENETICS, 2004, 36 (03) :228-230