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A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.


ABSTRACT: 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.

SUBMITTER: Dil S 

PROVIDER: S-EPMC10226489 | biostudies-literature | 2023 May-Jun

REPOSITORIES: biostudies-literature

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A novel homozygous frameshift variant in <i>DNAH8</i> causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.

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]

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2023-02-11 | GSE216618 | GEO