PATL2复合杂合变异致卵母细胞成熟障碍

doi:10.16352/j.issn.1001-6325.2022.01.004

基础医学与临床 ›› 2022, Vol. 42 ›› Issue (1): 51-55.doi: 10.16352/j.issn.1001-6325.2022.01.004

PATL2复合杂合变异致卵母细胞成熟障碍

霍明珠, 张轶乐, 徐家伟, 史昊, 刘益栋, 牛文彬^*

郑州大学第一附属医院生殖医学中心河南省生殖与遗传重点实验室,河南郑州 450052

收稿日期:2021-04-22 修回日期:2021-06-03 出版日期:2022-01-05 发布日期:2022-01-05
通讯作者: ^* wenbinniu2004@163.com
基金资助:
国家自然科学基金(81701443,31970799);中华医学会临床医学科研专项资金生殖医学青年医师研究与发展项目(17020250694)

Compound heterozygous variation of PATL2 causes oocyte maturation defect

HUO Ming-zhu, ZHANG Yi-le, XU Jia-wei, SHI Hao, LIU Yi-dong, NIU Wen-bin^*

Henan Key Laboratory of Reproduction and Genetics, Center for Reproductive Medicine, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

Received:2021-04-22 Revised:2021-06-03 Online:2022-01-05 Published:2022-01-05
Contact: ^* wenbinniu2004@163.com

摘要/Abstract

摘要： 目的探讨1例原发不孕伴卵母细胞成熟障碍患者的遗传学病因。方法对患者DNA进行全外显子组测序(WES),对WES检测到的阳性位点进行Sanger测序验证,并对该位点进行生物学信息分析。结果 WES检测到患者PATL2第14和13外显子c.1 374A＞G(p.Ile458Met)及c.1 289_1 291delTCC(p.Leu430del) 的复合杂合变异,母亲携带c.1 289_1 291delTCC(p.Leu430del) 杂合变异,父亲携带c.1 374A＞G(p.Ile458Met)的杂合变异。结论患者PATL2复合杂合变异可能是其卵母细胞成熟障碍而不孕的遗传学病因。

关键词: PATL2基因, 卵母细胞成熟障碍

Abstract: Objective To investigate the genetic etiology of a patient with primary infertility and oocyte maturation defect. Methods Whole exome sequencing (WES) was carried out on patient's DNA to detect potential pathologic variants. The positive sites detected by WES were verified by Sanger sequencing, and the bioinformatics analysis of the mutation was analyzed. Results The patient was found to harbor compound heterozygous variants of the PATL2 in exon 14 and 13 c.1 374A＞G (p.Ile458Met) and c.1 289_1 291delTCC (p.Leu430del), which were respectively inherited from her father and mother. Conclusions The compound heterozygous variation of PATL2 may be the genetic mechanism to explain infertility resulted from the disturbance of oocyte maturation.

Key words: PATL2 gene, oocyte maturation defect

中图分类号:

R394

霍明珠, 张轶乐, 徐家伟, 史昊, 刘益栋, 牛文彬. PATL2复合杂合变异致卵母细胞成熟障碍[J]. 基础医学与临床, 2022, 42(1): 51-55.

HUO Ming-zhu, ZHANG Yi-le, XU Jia-wei, SHI Hao, LIU Yi-dong, NIU Wen-bin. Compound heterozygous variation of PATL2 causes oocyte maturation defect[J]. Basic & Clinical Medicine, 2022, 42(1): 51-55.

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PATL2复合杂合变异致卵母细胞成熟障碍

Compound heterozygous variation of PATL2 causes oocyte maturation defect

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