Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

Marilena Nakaguma; Fernanda A Correa; Lucas S Santana; Anna F F Benedetti; Ricardo V Perez; Martha K P Huayllas; Mirta B Miras; Mariana F A Funari; Antonio M Lerario; Berenice B Mendonca; Luciani R S Carvalho; Alexander A L Jorge; Ivo J P Arnhold

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Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

机译：通过靶基因组对先天性垂体功能低下症的遗传诊断：GLI2，OTX2和GHRHR的新型致病变异

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AimCongenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of hypopituitarism poses difficulties to select the order of genes to analyse. The objective of our study is to screen hypopituitarism genes (candidate and previously related genes) simultaneously using a target gene panel in patients with congenital hypopituitarism.

机译：Aim先天性垂体功能低下的发生率是1：3500–10,000，定义为垂体激素的产生受损。早期诊断会对管理和遗传咨询产生影响。垂体功能低下的临床和遗传异质性给选择基因顺序进行分析带来了困难。我们研究的目的是在先天性垂体功能低下的患者中同时使用靶基因组筛查垂体功能低下的基因（候选基因和先前相关的基因）。

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《Endocrine Connections》 |2019年第5期|共6页
作者
Marilena Nakaguma; Fernanda A Correa; Lucas S Santana; Anna F F Benedetti; Ricardo V Perez; Martha K P Huayllas; Mirta B Miras; Mariana F A Funari; Antonio M Lerario; Berenice B Mendonca; Luciani R S Carvalho; Alexander A L Jorge; Ivo J P Arnhold;
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中图分类内科学;
关键词
congenital hypopituitarismgrowth hormone deficiencymutationsmassively parallel sequencinghigh-throughput nucleotide sequencingtarget gene panel;

机译：先天性垂体后叶生长激素缺乏症突变大规模并行测序高通量核苷酸测序靶基因组;

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1. Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly [J] . Fran?aM.M., JorgeA.A.L., CarvalhoL.R.S., Clinical Endocrinology . 2013,第4期

机译：先天性垂体功能低下而无全脑前性病变的非同义GLI2变异的发生频率相对较高
2. Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene ( GH1 ) and growth hormone releasing hormone receptor gene ( GHRHR ) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka [J] . Tharmini Sundralingam, Kamani Hemamala Tennekoon, Shamya de Silva, Growth hormone and IGF research: Official journal of the Growth Hormone Research Society and the International IGF Research Society . 2017,第期

机译：生长激素基因（GH1）和生长激素释放激素受体基因（GHRHR）中的致病性和致病性遗传改变和多态性在斯里兰卡群体群体中群体缺陷（IGHD）儿童
3. Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance [J] . F. H. M. van Lint, O. R. F. Mook, M. Alders, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation . 2019,第6期

机译：遗传性心脏病中的大型下一代测序基因组：致病性变异和未知意义的变异的产量
4. Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases [C] . Jorge Oliveira, Rute Pereira, Rosario Santos, International Conference on Bioinformatics Models, Methods and Algorithms . 2017

机译：纯合子映射使用全exome测序：一种有价值的遗传疾病致病变异鉴定的方法
5. Functional validation of candidate pathogenic variants for the personalized treatment of neoplastic and congenital disorders. [D] . Blackburn, Patrick Raymond. 2015

机译：个性化治疗肿瘤和先天性疾病的候选病原体功能验证。
6. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2 OTX2 and GHRHR [O] . Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, 2019

机译：通过靶基因组对先天性垂体功能低下症的遗传诊断：GLI2OTX2和GHRHR的新型致病变异
7. Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing [O] . Sebastian Vishnopolska, María Florencia Mercogliano, Maria Andrea Camilletti, 2021

机译：新型致病患者在先天性低钠划分的儿科患者中鉴定出LHX3，LHX4和GLI2的新致病变体：从变体调用变体测试

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

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