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Charles Coutton, Alexandra S Vargas, Amir Amiri-Yekta, Zine-Eddine Kherraf, Selima Fourati Ben Mustapha, Pauline Le Tanno, Clémentine Wambergue-Legrand, Thomas Karaouzène, Guillaume Martinez, Serge Crouzy, Abbas Daneshipour, Seyedeh Hanieh Hosseini, Valérie Mitchell, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Jean-François Deleuze, Anne Boland, Sylviane Hennebicq, Véronique Satre, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Beatrice Conne, Denis Dacheux, Nicolas Landrein, Alain Schmitt, Laurence Stouvenel, Patrick Lorès, Elma El Khouri, Serge P Bottari, Julien Fauré, Jean-Philippe Wolf, Karin Pernet-Gallay, Jessica Escoffier, Hamid Gourabi, Derrick R Robinson, Serge Nef, Emmanuel Dulioust, Raoudha Zouari, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F Ray
Spermatogenesis defects concern millions of men worldwide, yet the vast majority remains undiagnosed. Here we report men with primary infertility due to multiple morphological abnormalities of the sperm flagella with severe disorganization of the sperm axoneme, a microtubule-based structure highly conserved throughout evolution. Whole-exome sequencing was performed on 78 patients allowing the identification of 22 men with bi-allelic mutations in DNAH1 (n = 6), CFAP43 (n = 10), and CFAP44 (n = 6)...
February 15, 2018: Nature Communications
Yanwei Sha, Xiaoyu Yang, Libin Mei, Zhiyong Ji, Xu Wang, Lu Ding, Ping Li, Shenmin Yang
OBJECTIVE: To investigate dynein, axonemal, heavy chain 1 (DNAH1) gene mutations that may be associated with dysplasia of the sperm fibrous sheath (DFS) and infertility in the Han Chinese population. DESIGN: Dysfunction of DNAH1 is known to cause multiple morphologic abnormalities of the flagella (MMAF), DFS, and infertility. Whole-exome sequencing was performed in DFS subjects and the healthy control subjects. SETTING: Not applicable. PATIENT(S): Twenty-one patients of Han ethnicity with primary infertility and diagnosed with asthenozoospermia and MMAF, but without primary ciliary dyskinesia...
June 2017: Fertility and Sterility
Shuyan Tang, Xiong Wang, Weiyu Li, Xiaoyu Yang, Zheng Li, Wangjie Liu, Caihua Li, Zijue Zhu, Lingxiang Wang, Jiaxiong Wang, Ling Zhang, Xiaoling Sun, Erlei Zhi, Hongyan Wang, Hong Li, Li Jin, Yang Luo, Jian Wang, Shenmin Yang, Feng Zhang
Sperm motility is vital to human reproduction. Malformations of sperm flagella can cause male infertility. Men with multiple morphological abnormalities of the flagella (MMAF) have abnormal spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. The known human MMAF-associated genes, such as DNAH1, only account for fewer than 45% of affected individuals. Pathogenic mechanisms in the genetically unexplained MMAF remain to be elucidated. Here, we conducted genetic analyses by using whole-exome sequencing and genome-wide comparative genomic hybridization microarrays in a multi-center cohort of 30 Han Chinese men affected by MMAF...
June 1, 2017: American Journal of Human Genetics
Amir Amiri-Yekta, Charles Coutton, Zine-Eddine Kherraf, Thomas Karaouzène, Pauline Le Tanno, Mohammad Hossein Sanati, Marjan Sabbaghian, Navid Almadani, Mohammad Ali Sadighi Gilani, Seyedeh Hanieh Hosseini, Salahadin Bahrami, Abbas Daneshipour, Maurizio Bini, Christophe Arnoult, Roberto Colombo, Hamid Gourabi, Pierre F Ray
STUDY QUESTION: Can whole-exome sequencing (WES) of patients with multiple morphological abnormalities of the sperm flagella (MMAF) identify causal mutations in new genes or mutations in the previously identified dynein axonemal heavy chain 1 (DNAH1) gene? SUMMARY ANSWER: WES for six families with men affected by MMAF syndrome allowed the identification of DNAH1 mutations in four affected men distributed in two out of the six families but no new candidate genes were identified...
December 2016: Human Reproduction
X Wang, H Jin, F Han, Y Cui, J Chen, C Yang, P Zhu, W Wang, G Jiao, W Wang, C Hao, Z Gao
This study aimed to investigate the genetic pathogeny of multiple morphological anomalies of the flagella (MMAF), which is a genetically heterogeneous disorder leading to male infertility. Nine patients with severe asthenozoospermia caused by MMAF were recruited. Whole genome sequencing and Sanger sequencing were performed, and we found that four of the nine patients were affected by the same homozygous frameshift mutation c.11726_11727delCT (p.[Pro3909ArgfsTer33]) in exon 73 of dynein axonemal heavy chain 1 ( DNAH1 ) gene...
February 2017: Clinical Genetics
Clémentine Wambergue, Raoudha Zouari, Selima Fourati Ben Mustapha, Guillaume Martinez, Françoise Devillard, Sylviane Hennebicq, Véronique Satre, Sophie Brouillet, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Florence Amblard, Christophe Arnoult, Pierre F Ray, Charles Coutton
STUDY QUESTION: Does DNAH1 status influence intracytoplasmic sperm injection (ICSI) outcomes for patients with multiple morphological abnormalities of the sperm flagella (MMAF)? SUMMARY ANSWER: Despite a highly abnormal morphology, sperm from MMAF patients with DNAH1 mutations have a low aneuploidy rate and good nuclear quality, leading to good embryonic development following ICSI and a high pregnancy rate. WHAT IS KNOWN ALREADY: Teratozoospermia represents a heterogeneous group including a wide range of phenotypes...
June 2016: Human Reproduction
Yuhuan Meng, Wenlu Zhang, Jinghui Zhou, Mingyu Liu, Junhui Chen, Shuai Tian, Min Zhuo, Yu Zhang, Yang Zhong, Hongli Du, Xiaoning Wang
Some mammals breed throughout the year, while others breed only at certain times of year. These differences in reproductive behavior can be explained by evolution. We identified positively-selected genes in two sets of species with different degrees of relatedness including seasonal and non-seasonal breeding species, using branch-site models. After stringent filtering by sum of pairs scoring, we revealed that more genes underwent positive selection in seasonal compared with non-seasonal breeding species. Positively-selected genes were verified by cDNA mapping of the positive sites with the corresponding cDNA sequences...
2015: PloS One
Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan, Moeenaldeen Al-Sayed
BACKGROUND: Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinical symptoms including recurrent respiratory infections progressing to permanent lung damage and infertility. CASE PRESENTATION: Here we describe our search to delineate the molecular basis in two affected sisters with clinically diagnosed PCD from a consanguineous Saudi Arabian family, in which all known genes have been excluded...
2015: BMC Medical Genetics
Charles Coutton, Jessica Escoffier, Guillaume Martinez, Christophe Arnoult, Pierre F Ray
BACKGROUND: Male infertility affects >20 million men worldwide and represents a major health concern. Although multifactorial, male infertility has a strong genetic basis which has so far not been extensively studied. Recent studies of consanguineous families and of small cohorts of phenotypically homogeneous patients have however allowed the identification of a number of autosomal recessive causes of teratozoospermia. Homozygous mutations of aurora kinase C (AURKC) were first described to be responsible for most cases of macrozoospermia...
July 2015: Human Reproduction Update
Xiaoyun Wang, Fengyu Hu, Xuchu Hu, Wenjun Chen, Yan Huang, Xinbing Yu
Epidemiological and experimental evidence demonstrated that Clonorchis sinensis is an important risk factor of hepatic fibrosis and cholangiocarcinoma. C. sinensis excretory/secretory products (CsESPs) are protein complex including proteases, antioxidant enzymes, and metabolic enzymes, which may contribute to pathogenesis of liver fluke-associated hepatobiliary diseases. However, potential CsESP candidates involved into hepatic fibrosis and cholangiocarcinoma still remain to be elucidated. In the present study, we performed proteomic identification of CsESP candidates capable of binding and activating human hepatic stellate cell line LX-2...
August 2014: Parasitology Research
Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari, Thomas Karaouzène, John Rendu, Marie Bidart, Sandra Yassine, Virginie Pierre, Julie Delaroche, Sylviane Hennebicq, Didier Grunwald, Denise Escalier, Karine Pernet-Gallay, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Aminata Touré, Christophe Arnoult, Pierre F Ray
Ten to fifteen percent of couples are confronted with infertility and a male factor is involved in approximately half the cases. A genetic etiology is likely in most cases yet only few genes have been formally correlated with male infertility. Homozygosity mapping was carried out on a cohort of 20 North African individuals, including 18 index cases, presenting with primary infertility resulting from impaired sperm motility caused by a mosaic of multiple morphological abnormalities of the flagella (MMAF) including absent, short, coiled, bent, and irregular flagella...
January 2, 2014: American Journal of Human Genetics
Koa Hosoki, Takao Fujisawa, Sawako Masuda, Satoko Usui, Hiroaki Ito, Mizuho Nagao, Akihiko Terada, Kousei Iguchi, Satoru Ogawa, Kaname Nakatani, Kazuhiko Takeuchi
We report a case of 18-old girl with primary ciliary dyskinesia (PCD) who had been diagnosed as asthma. Since birth, she had presented with unexplained productive cough, sputum, rhinorrhea, and stridor with situs solitus. Her familial history was negative for PCD. At 2 years of age, ciliary beat frequency and beat pattern were normal. She was diagnosed as rhinosinusitis, chronic secretory otitis media. At 3 years of age, she was diagnosed as asthma because of wheezing not associated with respiratory infection...
July 2010: Arerugī, [Allergy]
J Neesen, R Kirschner, M Ochs, A Schmiedl, B Habermann, C Mueller, A F Holstein, T Nuesslein, I Adham, W Engel
Impaired ciliary and flagellar functions resulting in male infertility and recurrent respiratory tract infections are found in patients suffering from primary ciliary dyskinesia (PCD). In most cases, axonemal defects are present, i.e. PCD patients often lack inner and/or outer dynein arms in their sperm tails and cilia, supporting the hypothesis that mutations in dynein genes may cause PCD. However, to date it is unclear whether mutations in dynein heavy chain genes are responsible for impaired flagellar and ciliary motility in mammals...
May 15, 2001: Human Molecular Genetics
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