Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella,Clinical Genetics

当前位置： X-MOL 学术 › Clin. Genet. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-12-13 , DOI: 10.1111/cge.13898
Yankun Sha ₁ , Yanwei Sha ₂ , Wensheng Liu ₃ , Xingshen Zhu ₄ , Mingxiang Weng ₅ , Xinzong Zhang ₆ , Yifeng Wang ₃ , Huiliang Zhou ₇

Affiliation

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe type of teratozoospermia. In this study, whole‐exome sequencing was conducted on 55 patients with MMAF, and biallelic mutations of CFAP58 were identified in two patients. The variants are rare and pathogenic, and CFAP58 was absent in the CFAP58‐mutated sperm. The F037/II:1 couple benefited from intracytoplasmic sperm injection (ICSI). This study further indicated that CFAP58 is a pathogenic gene associated with MMAF and ICSI is an effective treatment.

中文翻译：

CFAP58的双等位基因突变与精子鞭毛的多种形态异常有关

精子鞭毛（MMAF）的多种形态异常是一种严重的畸形精子症。在这项研究中，对 55 名 MMAF 患者进行了全外显子组测序，并在 2 名患者中发现了CFAP58的双等位基因突变。这些变异是罕见的且具有致病性，CFAP58突变的精子中不存在CFAP58。F037/II:1 夫妇受益于卵胞浆内单精子注射 (ICSI)。本研究进一步表明CFAP58是与MMAF相关的致病基因，ICSI是一种有效的治疗方法。

更新日期：2021-02-08

点击分享查看原文

点击收藏

阅读更多本刊最新论文本刊介绍/投稿指南11