A homozygous FANCM frameshift pathogenic variant causes male infertility

Yin, Hong; Ma, Hui; Hussain, Sajjad; Zhang, Huan; Xie, Xuefeng; Jiang, Long; Jiang, Xiaohua; Iqbal, Furhan; Bukhari, Ihtisham; Jiang, Hanwei; Ali, Asim; Zhong, Liangwen; Li, Tao; Fan, Suixing; Zhang, Beibei; Gao, Jianing; Li, Yang; Jabeen, Nazish; Khan, Teka; Khan, Manan; Zubair, Muhammad; Hao, Qiaomei; Fang, Hui; Huang, Jun; Huleihel, Mahmoud; Sha, Jiahao; Pandita, Tej K.; Zhang, Yuanwei; Shi, Qinghua

doi:10.1038/s41436-018-0015-7

Cited by 81 publications

(74 citation statements)

References 36 publications

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“…P-value 0.824 0.587 0.120 0.247 0.026 1 Processed red meat included sausages and bologna 2 Red meat included hamburger, beef and lamb meat as a mixed or main dish 3 Poultry included chicken with or without skin, as a main dish, sandwich, or frozen dinner 4 Organ meat included liver and chicken liver…”

Section: Competing Interestsmentioning

confidence: 99%

The association between animal flesh foods consumption and semen parameters among infertile Iranian men: A cross-sectional study

Ghiasvand

Marvast

ShariatPanahi

et al. 2020

Preprint

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Background: Previous studies have demonstrated the association between dietary patterns and semen quality indicators, but research on the possible association between animal flesh foods consumption and semen quality is limited. Therefore, this study was conducted to investigate the association between animal flesh foods consumption with semen quality.Methods: In this cross-sectional study, 400 newly-identified (<6 months) infertile men, as diagnosed by an andrologist, were recruited into the study. Dietary intake was assessed by using a semiquantitative Food Frequency Questionnaire. The total meat consumption was defined as the sum of red meat, poultry, fresh fish, canned fish, processed meats, and organ meats in the diet. A linear mixed model was used to assess the relationship between meat consumption and semen quality indicators of participants.Results: Consumption of canned fish was inversely related to sperm immotility. Compared with the men in the lowest quartile of canned fish intake, those in the highest quartile had a lower sperm immotility [lowest quartile: 52.5%; (95% CI: 47-57) vs 47.4%; (95% CI: 43-51) P-trend=0.026]. Similarly, a trend toward an inverse significant association between fresh fish intake and sperm immotility was observed (P-trend=0.074). In contrast, fresh and canned fish intake was unrelated to other outcomes of sperm quality (P-trend >0.05). No association was found between consumption of processed red meat, red meat, poultry, and organ meat, and semen quality indicators (P-trend >0.05).Conclusions: We found that consumption of canned fish is associated with a lower percentage of immotile sperm, whilst a high consumption of fresh fish increased the percentage of immotile sperm in Iranian infertile men. Further studies are recommended in this regard.

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Section: Competing Interestsmentioning

confidence: 99%

The association between animal flesh foods consumption and semen parameters among infertile Iranian men: A cross-sectional study

Ghiasvand

Marvast

ShariatPanahi

et al. 2020

Preprint

View full text Add to dashboard Cite

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“…The screening for candidate pathogenic variants was performed as we previously described [24]. The annotation and filtration of identified variants were based on Ensembl (http://www.ensembl.org).…”

Section: Methodsmentioning

confidence: 99%

Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family

et al. 2019

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Background: Congenital hypogonadotropic hypogonadism (CHH) is a heterogeneous disorder characterized by delayed or loss of puberty and infertility due to functional deficiency in the hypothalamic gonadotropin-releasing hormone (GnRH). CHH can be classified into 2 subtypes on the basis of olfaction: Kallmann syndrome and normosmic CHH (nCHH). The spectrum of genetic variants causing CHH is continually expanding. Here, we recruited a consanguineous Pakistani family having 2 male and 2 female infertile patients diagnosed with idiopathic nCHH. Aims: The aim of this study was to investigate the genetic cause of nCHH in the family. Methods: Clinical and physical analyses were performed for the patients. Genetic analysis was carried out using whole exome and Sanger sequencing. Results: Clinical and physical investigations confirmed low levels of gonadotropins and failure of secondary sexual development in the patients. Genetic analysis identified a novel nonsense mutation (chr4: g.68619942G>A, c.112C>T, p.Arg38*) in the gonadotropin-releasing hormone receptor gene (GNRHR) recessively co-segregating with nCHH in this family. All the patients are homozygous and their parents are heterozygous carriers, while normal siblings are heterozygous carriers or wild-type for this mutation, indicating that the identified mutation is pathogenic for nCHH in the family. Conclusion: We report the first homozygous nonsense mutation in the GNRHR gene (chr4: g. 68619942G>A, c.112C>T, p. Arg38*) that is associated with familial nCHH. Hence, our study displayed a good correlation of the genotype and phenotype of nCHH patients.

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“…It has been demonstrated that chromosomal aberrations and Y chromosome microdeletions are frequent genetic causes of SO; however, routine screening for these well‐established genetic causes only results in the diagnosis of a small number of cases. Recently, although several mutations in spermatogenesis‐related genes, including KLHL10 , CDC14A , and FANCM , have been reported to cause oligozoospermia or SO in humans, fewer than 25% of SO cases currently have a clear genetic diagnosis. Considering the complex process of spermiogenesis and large number of genes involved, it can be presumed that most genetic causes of SO have not been characterized.…”

Section: Introductionmentioning

confidence: 99%

An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

Wang

Nie

et al. 2020

Clinical Genetics

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HIGHLIGHTS IN THIS ISSUENon-syndromic X linked intellectual disability: a review Missense RELT variants in hypomineralised amelogenesis imperfecta A non-sense variant in the fi rst exon of XLαs associated with hypophosphatemia and osteopetrosis Mitochondrial DNA pathogenic variants in multiple symmetric lipomatosis A novel phenotype of syndromic premature ovarian insuffi ciency and TP63 molecular defects MAY 2020 | Volume 97 | Number 5 MANUSCRIPTS Manuscripts must be submitted via our online manuscript submission and peer-review system, at:

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A homozygous FANCM frameshift pathogenic variant causes male infertility

Abstract: These findings revealed male infertility to be a novel phenotype of human patients with a biallelic FANCM PV.

Cited by 81 publications

References 36 publications

The association between animal flesh foods consumption and semen parameters among infertile Iranian men: A cross-sectional study

The association between animal flesh foods consumption and semen parameters among infertile Iranian men: A cross-sectional study

Whole Exome Sequencing Revealed a Novel Nonsense Variant in the <b><i>GNRHR</i></b> Gene<b><i></i></b> Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family

An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

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