Gene analysis of PROP1 in dwarfism with combined pituitary hormone deficiency

被引：7
|
作者：
Takamura, N
Fofanova, OV
Kinoshita, E
Yamashita, S
机构：
[1] Nagasaki Univ, Sch Med, Atom Bomb Dis Inst, Dept Int Hlth & Radiat Res, Nagasaki, Japan
[2] Med Genet Res Ctr, Endocrinol Res Ctr, Moscow, Russia
[3] Nagasaki Univ, Sch Med, Dept Pediat, Nagasaki 852, Japan
来源：
GROWTH HORMONE & IGF RESEARCH | 1999年 / 9卷
关键词：
combined pituitary hormone deficiency (CPHD); PROP1; POU1F1;
D O I：
10.1016/S1096-6374(99)80075-6
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD). Recently, PROP1 mutations have been identified in CPHD families, including our Russian cohort. The 2-bp deletion, 296delGA (A301G302del), is the most common mutational hot spot. Furthermore, in our cohort, PROP1 mutations are more common in comparison with human POU1F1 gene mutations. Here we review the gene analysis of PROP1 in patients with CPHD. (C) 1999 Harcourt Publishers Ltd.
引用
收藏
页码：12 / 17
页数：6
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