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Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.
Sha, Yankun; Sha, Yanwei; Liu, Wensheng; Zhu, Xingshen; Weng, Mingxiang; Zhang, Xinzong; Wang, Yifeng; Zhou, Huiliang.
Afiliación
  • Sha Y; General Practice, First Affiliated Hospital of Jinzhou Medical University, Jinzhou, China.
  • Sha Y; Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen, China.
  • Liu W; Obstetrics and Gynecology Center, Department of Gynecology and Obstetrics, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
  • Zhu X; School of Pharmaceutical Sciences, Xiamen University, Xiamen, China.
  • Weng M; School of Life Sciences, Xiamen University, Xiamen, China.
  • Zhang X; NHC Key Laboratory of Male Reproduction and Genetics (Family Planning Research Institute of Guangdong Province), Guangzhou, China.
  • Wang Y; Obstetrics and Gynecology Center, Department of Gynecology and Obstetrics, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
  • Zhou H; Department of Andrology, First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Clin Genet ; 99(3): 443-448, 2021 03.
Article en En | MEDLINE | ID: mdl-33314088
Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe type of teratozoospermia. In this study, whole-exome sequencing was conducted on 55 patients with MMAF, and biallelic mutations of CFAP58 were identified in two patients. The variants are rare and pathogenic, and CFAP58 was absent in the CFAP58-mutated sperm. The F037/II:1 couple benefited from intracytoplasmic sperm injection (ICSI). This study further indicated that CFAP58 is a pathogenic gene associated with MMAF and ICSI is an effective treatment.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cola del Espermatozoide / Espermatozoides / Variación Genética / Anomalías Múltiples / Teratozoospermia / Proteínas Asociadas a Microtúbulos Tipo de estudio: Risk_factors_studies Límite: Humans / Male Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cola del Espermatozoide / Espermatozoides / Variación Genética / Anomalías Múltiples / Teratozoospermia / Proteínas Asociadas a Microtúbulos Tipo de estudio: Risk_factors_studies Límite: Humans / Male Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Dinamarca