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A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.
Dil, Sobia; Khan, Asad; Unar, Ahsanullah; Yang, Meng-Lei; Ali, Imtiaz; Zeb, Aurang; Zhang, Huan; Zhou, Jian-Teng; Zubair, Muhammad; Khan, Khalid; Bai, Shun; Shi, Qing-Hua.
Afiliación
  • Dil S; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Khan A; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Unar A; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Yang ML; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Ali I; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Zeb A; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Zhang H; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Zhou JT; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Zubair M; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Khan K; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Bai S; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
  • Shi QH; Division of Reproduction and Genetics, The First Affiliated Hospital of University of Science and Technology of China, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China,
Asian J Androl ; 25(3): 350-355, 2023.
Article en En | MEDLINE | ID: mdl-36308074
Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Furthermore, an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa. Collectively, our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Infertilidad Masculina Tipo de estudio: Etiology_studies Límite: Humans / Male País/Región como asunto: Asia Idioma: En Revista: Asian J Androl Asunto de la revista: MEDICINA REPRODUTIVA / UROLOGIA Año: 2023 Tipo del documento: Article Pais de publicación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Infertilidad Masculina Tipo de estudio: Etiology_studies Límite: Humans / Male País/Región como asunto: Asia Idioma: En Revista: Asian J Androl Asunto de la revista: MEDICINA REPRODUTIVA / UROLOGIA Año: 2023 Tipo del documento: Article Pais de publicación: China