Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).
Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).
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PROP1 基因突变导致家族性联合垂体激素缺乏症的表型变异，导致密码子 120 (R120C) 处的 Arg-->Cys 被取代。
DOI：
10.1210/jcem.83.10.5172
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
P. Mullis
中科院分区：
文献类型：
--
作者：
Christa E. Flück;Johnny Deladoëy;Kuno Rutishauser;A. Eblé;Ulrich Marti;Wei Wu;P. Mullis
由于垂体功能取决于下丘脑-垂体轴的完整性，该腺体发育和器官发生的任何缺陷都可能导致垂体激素联合缺乏症（CPHD）。一种新的、组织特异性的、配对样同源结构域转录因子（称为Prophet of Pit-1（PROP 1））的突变已被鉴定为导致艾姆斯侏儒（df）小鼠表型，此后，在CPHD患者中发现了不同的PROP 1基因改变。我们报告的后续行动的两个血缘家庭（n = 12），与CPHD（3男2女）受影响的相同的核苷酸C到T的转换，导致在PROP 1的密码子120的精氨酸->半胱氨酸取代引起的5个主题。重要的是，即使在具有相同突变的患者中，表型也存在变异性。诊断时的年龄取决于症状的严重程度，从9个月到8岁不等。虽然在一名患者中TSH缺乏是该疾病的首发症状，但所有患者均表现出严重的生长迟缓和发育不良，这主要是由GH缺乏引起的（n = 4）。垂体源性激素（GH、PRL、TSH、LH和FSH）的分泌随着年龄的增长而逐渐下降，每个个体的模式不同;因此，缺乏症在一段可变的时间内发展。所有受试者均自发进入青春期，2名女性在需要替代治疗前也经历了月经初潮和月经期。
As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in the development and organogenesis of this gland may account for a form of combined pituitary hormone deficiency (CPHD). A mutation in a novel, tissue-specific, paired-like homeodomain transcription factor, termed Prophet of Pit-1 (PROP1), has been identified as causing the Ames dwarf (df) mouse phenotype, and thereafter, different PROP1 gene alterations have been found in humans with CPHD. We report on the follow-up of two consanguineous families (n = 12), with five subjects affected with CPHD (three males and two females) caused by the same nucleotide C to T transition, resulting in the substitution of Arg-->Cys in PROP1 at codon 120. Importantly, there is a variability of phenotype, even among patients with the same mutation. The age at diagnosis was dependent on the severity of symptoms, ranging from 9 months to 8 yr. Although in one patient TSH deficiency was the first symptom of the disorder, all patients became symptomatic by exhibiting severe growth retardation and failure to thrive, which was mainly caused by GH deficiency (n = 4). The secretion of the pituitary-derived hormones (GH, PRL, TSH, LH, and FSH) declined gradually with age, following a different pattern in each individual; therefore, the deficiencies developed over a variable period of time. All of the subjects entered puberty spontaneously, and the two females also experienced menarche and periods before a replacement therapy was necessary.
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DOI：
10.1210/jcem.80.2.7852536
发表时间：
1995-02
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Laurie E. Cohen;F. Wondisford;A. Salvatoni;Mohamad Maghnie;F. Brucker-Davis;B. Weintraub;Sally Radovick
通讯作者：
Laurie E. Cohen;F. Wondisford;A. Salvatoni;Mohamad Maghnie;F. Brucker-Davis;B. Weintraub;Sally Radovick
斯内尔侏儒小鼠的垂体个体发育揭示了促甲状腺素的不依赖于 Pit-1 和 Pit-1 的起源。
DOI：
10.1242/dev.120.3.515
发表时间：
1994
期刊：
Development (Cambridge, England)
影响因子：
--
作者：
Lin,SC;Li,S;Drolet,DW;Rosenfeld,MG
通讯作者：
Rosenfeld,MG
P-OTX：垂体前叶发育期间表达的 PIT-1 相互作用同源域因子。
DOI：
10.1073/pnas.93.15.7706
发表时间：
1996
影响因子：
11.1
作者：
Szeto,DP;Ryan,AK;O'Connell,SM;Rosenfeld,MG
通讯作者：
Rosenfeld,MG
GH 表达和垂体前叶发育的转录控制。
影响因子：
20.3
作者：
Theill,LE;Karin,M
通讯作者：
Karin,M