A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia

• DOI: 10.3389/fendo.2023.1122004
• Publication Date: 2023-06-24T00:45:22Z
• Authors: Fei Huang; Jun Zeng; Dan Liu; Jing Zhang; Boluo Liang; Jingping Gao; Rong Yan; Xiaobo Shi; Jianlin Chen; Wanjuan Song; Hua-Lin Huang
• Keywords: Sanger sequencing; Genetic Analysis

Introduction Asthenoteratozoospermia is one of the most common causes male infertility. Several genes have been identified as genetic causative factors, but there a considerable heterogeneity underlying asthenoteratozoospermia. In this study, we performed analysis two brothers from consanguineous Uighur family in China to identify gene mutations for asthenoteratozoospermia-related Methods Two related patients with asthenoteratozoospermia large were sequenced by whole-exome sequencing and Sanger disease-causing genes. Scanning transmission electron microscopy revealed ultrastructural abnormalities spermatozoa. Quantitative real-time PCR (qRT-PCR) immunofluorescence (IF) used assess expression mutant messenger RNA (mRNA) protein. Results A novel homozygous frameshift mutation (c.2823dupT, p.Val942Cysfs*21) DNAH6 was both affected individuals predicted be pathogenic. Papanicolaou staining multiple morphological qRT-PCR IF showed abnormal sperm, probably due premature termination code decay 3′ untranslated region (UTR) mRNA. Furthermore, intracytoplasmic sperm injection could achieve successful fertilization infertile men mutations. Discussion The may contribute These findings expand spectrum phenotypes associated useful reproductive counseling