Ontology highlight
ABSTRACT:
SUBMITTER: Dil S
PROVIDER: S-EPMC10226489 | biostudies-literature | 2023 May-Jun
REPOSITORIES: biostudies-literature
Dil Sobia S Khan Asad A Unar Ahsanullah A Yang Meng-Lei ML Ali Imtiaz I Zeb Aurang A Zhang Huan H Zhou Jian-Teng JT Zubair Muhammad M Khan Khalid K Bai Shun S Shi Qing-Hua QH
Asian journal of andrology 20230501 3
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-p ...[more]