Expanding the Genetic Etiology of Multiple Morphological Abnormalities of the Sperm Flagella: A Case Report of Two Novel DNAH1 Variants.

Q4 Medicine South Dakota medicine : the journal of the South Dakota State Medical Association Pub Date : 2024-12-01

Emily Anderson, Megan Bell, Katherine Hornberger, Jason Flanagan, Kayleigh Avello, Fang Xu, Steffen Christensen, Ellen Johnson

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Abstract

Background: The following case report details the genetic evaluation and treatment of a 30-year-old male with a history of asthenoteratospermia and notable abnormalities of the sperm flagella.

Methods: Genetic evaluation was performed via a multi-gene panel of genes associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella (MMAF) prior to the couple's in vitro fertilization (IVF) cycle.

Results: Genetic evaluation was performed via a multi-gene panel of genes associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella (MMAF) prior to the couple's in vitro fertilization (IVF) cycle.

Conclusions: The two novel DNAH1 variants add to the growing body of evidence of the relationship between DNAH1 and multiple morphological abnormalities of the sperm flagella. DNAH1 variants and abnormal sperm morphology appear to negatively impact embryo development. Genetic counseling can aid in genetic testing and counseling related to male infertility.

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扩展精子鞭毛多种形态异常的遗传病因学：两个新的DNAH1变异的病例报告。

背景：以下病例报告详细介绍了一名30岁男性的遗传评估和治疗，他有弱异精子症病史，精子鞭毛明显异常。方法：在夫妇进行体外受精（IVF）周期之前，通过与原发性纤毛运动障碍和精子鞭毛（MMAF）多种形态异常相关的多基因面板进行遗传评估。结果：在夫妇的体外受精（IVF）周期之前，通过与原发性纤毛运动障碍和精子鞭毛（MMAF）多种形态异常相关的基因的多基因面板进行遗传评估。结论：这两个新的DNAH1变异增加了越来越多的证据表明DNAH1与精子鞭毛的多种形态异常之间的关系。DNAH1变异和精子形态异常似乎会对胚胎发育产生负面影响。遗传咨询可以帮助进行与男性不育相关的基因检测和咨询。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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South Dakota medicine : the journal of the South Dakota State Medical Association Medicine-Medicine (all)

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