Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
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DOI：
10.1016/j.fertnstert.2011.05.057
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发表时间：
2011-08
影响因子：
6.7
通讯作者：
Tekin, Mustafa
中科院分区：
文献类型：
--
作者：
Yariz, Kemal O.;Walsh, Tom;Uzak, Asli;Spiliopoulos, Michail;Duman, Duygu;Onalan, Gogsen;King, Mary-Claire;Tekin, Mustafa
关键词：
通过基因组分析检测空卵泡综合征（EFS）在一个家庭中的两个受影响的姐妹篇是否有遗传基础。临床遗传学背景下的全外显子组测序。大学医院。两名女性（研究时分别为36岁和32岁）患有EFS。常染色体隐性遗传的遗传咨询。发现LH/绒毛膜促性腺激素受体（LHCGR）突变是EFS的原因。一种新的错义突变LHCGR，p.N400S，是纯合子的姐妹篇与EFS和/或不育，但不是在他们的未受影响的兄弟姐妹或父母。在500名祖先匹配的对照受试者中不存在突变。天冬酰胺残基400是高度保守的，其取代丝氨酸预测改变关键的相互作用，稳定LHCGR。我们描述了EFS的遗传基础，并为某些患者存在真正的EFS提供了强有力的证据。一种损害LHCGR功能的突变解释了这些患者对β-hCG重复给药缺乏反应。
To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis. Whole-exome sequencing in the context of clinical genetics. University hospital. Two women (36 and 32 years old at the time of the study) with EFS. Genetic counseling based on autosomal recessive inheritance. Discovery of a mutation in the LH/choriogonadotropin receptor (LHCGR) as the cause of EFS. A novel missense mutation in LHCGR, p.N400S, was homozygous in sisters with EFS and/or infertility, but not in their unaffected siblings or parents. The mutation was not present in 500 ancestry-matched control subjects. Asparagine at residue 400 is highly conserved and its substitution by serine predicted to alter critical interactions that stabilize LHCGR. We describe a genetic basis for EFS and provide strong evidence for the existence of genuine EFS in some patients. A mutation impairing the function of LHCGR explains the lack of response of these patients to repeated administration of β-hCG.
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影响因子：
14.8
作者：
Kumar, Prateek;Henikoff, Steven;Ng, Pauline C.
通讯作者：
Ng, Pauline C.
影响因子：
6.1
作者：
Vujisic, S;Stipoljev, F;Jezek, D
通讯作者：
Jezek, D
影响因子：
6.1
作者：
Desai, N.;Austin, C.;Falcone, T.
通讯作者：
Falcone, T.
影响因子：
3.1
作者：
Shulman, A;BenNun, I;Mashiach, S
通讯作者：
Mashiach, S
影响因子：
--
作者：
Zhang, FP;Poutanen, M;Huhtaniemi, I
通讯作者：
Huhtaniemi, I