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
相关论文
共 50 条
  • [41] Mistrust false prophets! congenital inactivation of PROP1 results in a combined familial pituitary deficiency
    Raffin-Sanson, ML
    M S-MEDECINE SCIENCES, 1998, 14 (6-7): : 796 - 796
  • [42] Molecular analysis of PIT1, PROP1, LHX3, and HESX1 in patients with combined pituitary hormone deficiency: multicenter study
    Bas, Firdevs
    Darendeliler, Feyza F.
    Oyguner, Oya
    Aycan, Zehra
    Cetinkaya, Ergun
    Berberoglu, Merih
    Siklar, Zeynep
    Yuksel, Bilgin
    Darcan, Sukran
    Ercan, Oya
    Evliyaoglu, Olcay
    Cetinkaya, Semra
    Sen, Yasar
    Atabek, Emre
    Bundak, Ruveyde
    HORMONE RESEARCH, 2009, 72 : 396 - 397
  • [43] C.301-302 DelAG MUTATION IN THE PROP1 GENE AS MOLECULAR BASIS OF PROGRESSIVE COMBINED PITUITARY HORMONE DEFICIENCY IN TWO RUMANIAN BROTHERS
    Ghervan, C.
    Stroe, M.
    Olarescu, C.
    Ghervan, L.
    Duncea, I.
    Legendre, M.
    Young, J.
    ACTA ENDOCRINOLOGICA-BUCHAREST, 2010, 6 (04) : 401 - 412
  • [44] Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency
    Kandemir, Nurgun
    Vuralli, Dogus
    Taskiran, Ekim
    Gonc, Nazli
    Ozon, Alev
    Alikasifoglu, Ayfer
    Yilmaz, Engin
    TURKISH JOURNAL OF PEDIATRICS, 2012, 54 (06) : 570 - 575
  • [45] Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
    Bertko, Eleonore
    Klammt, Juergen
    Dusatkova, Petra
    Bahceci, Mithat
    Gonc, Nazli
    ten Have, Louise
    Kandemir, Nurgun
    Mansmann, Georg
    Obermannova, Barbora
    Oostdijk, Wilma
    Pfaeffle, Heike
    Rockstroh-Lippold, Denise
    Schlicke, Marina
    Tuzcu, Alpaslan Kemal
    Pfaeffle, Roland
    JOURNAL OF HUMAN GENETICS, 2017, 62 (08) : 755 - 762
  • [46] Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
    Eleonore Bertko
    Jürgen Klammt
    Petra Dusatkova
    Mithat Bahceci
    Nazli Gonc
    Louise ten Have
    Nurgun Kandemir
    Georg Mansmann
    Barbora Obermannova
    Wilma Oostdijk
    Heike Pfäffle
    Denise Rockstroh-Lippold
    Marina Schlicke
    Alpaslan Kemal Tuzcu
    Roland Pfäffle
    Journal of Human Genetics, 2017, 62 : 755 - 762
  • [47] Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency
    Vieira, Teresa C.
    Boldarine, Valter T.
    Abucham, Juuo
    ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2007, 51 (07) : 1097 - 1103
  • [48] Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
    Lo Madeira, Joao
    Nishi, Mirian Y.
    Nakaguma, Marilena
    Benedetti, Anna F.
    Biscotto, Isabela Peixoto
    Fernandes, Thamiris
    Pequeno, Thiago
    Figueiredo, Thalita
    Franca, Marcela M.
    Correa, Fernanda A.
    Otto, Aline P.
    Abrao, Milena
    Miras, Mirta B.
    Santos, Silvana
    Jorge, Alexander A. L.
    Costalonga, Everlayny F.
    Mendonca, Berenice B.
    Arnhold, Ivo J. P.
    Carvalho, Luciani R.
    CLINICAL ENDOCRINOLOGY, 2017, 87 (06) : 725 - 732
  • [49] Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency
    Cruz, Juliana B.
    Nunes, Vania S.
    Clara, Sueli A.
    Perone, Denise
    Kopp, Peter
    Nogueira, Celia P.
    ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2010, 54 (05) : 482 - 487
  • [50] PROP1 mutations in children with isolated deficiency of growth hormone
    Parks, JS
    Brown, MR
    Oltarzewski, M
    Lenartowska, I
    PEDIATRIC RESEARCH, 2000, 47 (04) : 137A - 137A
12345