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新型的SPEF2变异会导致男性不孕症和可能的初级状腺功能障碍

Wenqing Lu¹, Yong Li¹, Lanlan Meng^1,2

¹Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Sciences, Central South University, Changsha, China.

Journal of assisted reproduction and genetics

|April 3, 2024

概括

这项研究在汉族中华家庭中发现了四种新的SPEF2基因变异,将它们与男性不孕症和原发性纤维动力障碍 (PCD) 联系起来. 这些发现为遗传咨询和治疗这些疾病提供了洞察力.

科学领域:

遗传学遗传学是一个
生殖生物学生殖生物学
呼吸系统医学呼吸系统医学

背景情况:

男性不孕症和原发性纤维动力障碍 (PCD) 是具有复杂遗传基础的衰弱性疾病.
了解这些疾病的遗传病因对于诊断,遗传咨询和治疗开发至关重要.
SPEF2基因已涉及精子鞭毛结构和功能,但其在PCD中的作用不太清楚.

研究的目的:

调查男性不孕症和PCD/PCD类现象型的遗传原因,在三个与汉族无关的汉族家庭中.
识别和描述与这些疾病相关的SPEF2基因中的新型致病变体.

主要方法:

在三个患有男性不孕症和PCD/PCD类表型的患者身上进行了全外体序列测序.
对患者的精子和呼吸道进行了超结构和免疫染分析.
进行了体外分析,以评估已识别的SPEF2变异的功能影响;用于治疗的是细胞内精子注射 (ICSI).

主要成果:

发现了四种新的致病性SPEF2变体:一种同卵性拼接变体,两个复合异卵性无意义变体和一种同卵性错误变体.
所有受影响的患者都表现出男性不孕症和PCD/可能的PCD,精子在鞭毛体中缺乏中央对复合体.
在基预测和体外分析证实了发现的SPEF2变异的有害性质;ICSI导致健康的婴儿.

结论:

该研究确定了四种新的致病性SPEF2变异,这些变异有助于男性不孕症和PCD/PCD类表型.
这些发现扩大了已知的SPEF2突变及其相关临床表现的范围.
结果为遗传咨询提供了有价值的信息,并为受影响个体的潜在治疗策略提供了信息.

关键词:

在SPEF2突变中.在细胞体内注射精子 (ICSI)男人不孕不育的情况主要的状动力障碍 (PCD)

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