Novel bi-allelic mutations in DNAH1 cause multiple morphological abnormalities of the sperm flagella resulting in male infertility

Jiang, Chuan; Zhang, Xueguang; Guo, Jinxin; Zhang, Chaoliang; Li, Jinhong; Yang, Yihong

doi:10.21037/tau-20-1434

Cited by 7 publications

(3 citation statements)

References 29 publications

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“…However, their article involved only one patient of Han Chinese origin who presented with infertility and MMAF. Interestingly, the patient was born as a result of a consanguineous marriage 21 …”

Section: Resultsmentioning

confidence: 99%

“…Interestingly, the patient was born as a result of a consanguineous marriage. 21 Despite the small number of included test subjects and the lack of control groups, the abovementioned studies found a higher prevalence of variants in the DNAH1 gene among men with impaired sperm motility, which could link this gene to the etiology of male infertility in these cases.…”

Section: Genes Responsible For the Synthesis Of Dynein Structural Pro...mentioning

confidence: 98%

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Potential role of dynein‐related genes in the etiology of male infertility: A systematic review and a meta‐analysis

2022

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Background The dynein‐related genes may have a role in the etiology of male infertility, particularly in cases of impaired sperm motility. Objectives The goal of this review is to compile a list of the most important dynein‐related candidate genes that may contribute to male factor infertility. Materials and methods Databases were searched using the keywords “dynein,” “male,” “infertility,” and by applying strict inclusion criteria. A meta‐analysis was also performed by using the eligible case‐control studies. The odd ratios (ORs), the Z‐test score, and the level of significance were determined using a fixed model with a p value of 0.05. Funnel plots were used to check for publication bias. Results There were 35 studies that met the inclusion criteria. There were a total of 15 genes responsible for the production of dynein structural proteins, the production of dynein assembling factors, and potentially associated with male infertility. A total of five case‐control studies were eligible for inclusion in the meta‐analysis. Variants in the dynein‐related genes were linked to an increased the risk of male infertility (OR = 21.52, 95% confidence interval 8.34–55.50, Z test = 6.35, p < 0.05). The percentage of heterogeneity, I2, was 47.00%. The lack of variants in the dynein genes was an advantage, and this was statistically significant. Discussion The results from the present review illustrate that pathogenic variants in genes both for dynein synthesis and for dynein assembly factors could be associated with isolated cases of male infertility without any other symptoms. Conclusions The genes addressed in this study, which are involved in both the production and assembly of dynein, could be used as molecular targets for future research into the etiology of sperm motility problems.

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Section: Resultsmentioning

confidence: 99%

Section: Genes Responsible For the Synthesis Of Dynein Structural Pro...mentioning

confidence: 98%

Potential role of dynein‐related genes in the etiology of male infertility: A systematic review and a meta‐analysis

2022

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“…The sperm is composed of three parts: head, middle part, and tail [22]. The cytoskeleton of normal mobile sperm flagellum follows a "9+2" axonemal configuration and is surrounded by a fibrous sheath, mainly composed of nine outer microtubule doublets, two CPs, and an outer dense fiber [23][24][25]. Abnormal structure of the sperm fiber sheath and a lack of CP may cause MMAF, resulting in abnormal sperm tail morphology, including short, curly, or absent tails.…”

Section: Discussionmentioning

confidence: 99%

Compound Heterozygous Mutations in FSIP2 Cause Morphological Abnormalities in Sperm Flagella Leading to Male Infertility

Gao

Zhang

et al. 2023

Andrologia

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Multiple morphological abnormalities of sperm flagella (MMAF) indicate severe teratozoospermia. The fibrous sheath interacting protein 2 (FSIP2) plays an important role in the normal construction of the flagella. In this study, a novel compound heterozygous mutation site of FSIP2, involving c.272_275delinsAGGTTTTTATA (p.L92Vfster74) and c.16788_16791del (p.E5596fs), was identified using whole-exome sequencing in a 32-year-old male. Electron microscope images revealed thick sperm neck, scattered sperm mitochondria, and short sperm tail. In addition, FSIP2 could not be visualized in sperm cells via immunofluorescence staining. Moreover, we used a protein domain prediction tool to identify a potential FSIP2 functional domain (5901-6774), the corresponding deletion of which was responsible for the MMAF phenotype in the infertile man. Finally, we reviewed the literature on FSIP2 and found that FSIP2 mutations are relatively concentrated, with high-frequency mutation regions in exon 16 and exon 17 accounting for 50% (10/20) and 35% (7/20) of cases, respectively. In conclusion, FISP2 is a common pathogenic gene of MMAF, which may provide a rationale for genetic counseling in the next generation of patients with male infertility.

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Differential proteomics highlights specific testicular proteins associated with chicken sperm motility and fertility potential

Sun

Shi

et al. 2023

Annals of Agricultural Sciences

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Novel bi-allelic mutations in DNAH1 cause multiple morphological abnormalities of the sperm flagella resulting in male infertility

Cited by 7 publications

References 29 publications

Potential role of dynein‐related genes in the etiology of male infertility: A systematic review and a meta‐analysis

Potential role of dynein‐related genes in the etiology of male infertility: A systematic review and a meta‐analysis

Compound Heterozygous Mutations in FSIP2 Cause Morphological Abnormalities in Sperm Flagella Leading to Male Infertility

Differential proteomics highlights specific testicular proteins associated with chicken sperm motility and fertility potential

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