空卵泡综合征患者家系的LHCGR基因突变检测及系谱分析

目的 探究促黄体生成素/绒毛膜促性腺激素受体(LHCGR)基因突变与空卵泡综合征(EFS)的关系,指导相关生殖疾病的诊治。方法 通过基因测序对一例EFS的不孕症患者进行LHCGR基因突变和家系分析。结果 该患者LHCGR 基因第11 外显子处存在纯合突变:chr2:48915113A>G,c.1823T>C,p.Leu608Pro,突变使LHCGR 蛋白在第 608 位由亮氨酸(Leucine, Leu)突变为脯氨酸(Proline ,Pro)。对该患者进行家系分析并对其家庭成员测序发现,父母在此位点属于杂合突变,先证者弟弟(46,XY。未育)属于纯合突变,先证者妹妹(育有一女孩、一男孩)属于杂合突变。结论 LHCGR基因突变可导致EFS,进而导致相关生殖疾病的发生。

Detection of LHCGR gene mutation and pedigree analysis in the family with empty follicular syndrome

Objective To explore the relationship between LHCGR gene mutation and empty follicular syndrome and to guide the diagnosis and treatment of related reproductive diseases. Methods An analysis was carried out on LHCGR gene mutation and pedigree of a infertile patient with empty follicular syndrome by gene sequencing. Results There was homozygous mutation in exon 11 of LHCGR gene in this patient: chr2:48915113A>G, c.1823T>C, p. Leu608Pro. The mutation resulted in the mutation of LHCGR protein from leucine (Leucine, Leu) to proline (Proline, Pro) at position 608. The family analysis of the patient and sequencing of the family members showed that the parents belonged to the heterozygous mutation, the proband brother (46, XY) was a homozygous mutation, and the proband sister (with a girl and a boy) belonged to a heterozygous mutation. Conclusion LHCGR gene mutation can lead to empty follicle syndrome, which in turn leads to the occurrence of related reproductive diseases.