A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family / 亚洲男科学杂志(英文版)
Asian Journal of Andrology
; (6): 350-355, 2023.
Article
Dans En
| WPRIM
| ID: wpr-981954
Responsable en Bibliothèque :
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pakistan
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Sperme
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Flagelle du spermatozoïde
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Spermatozoïdes
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Consanguinité
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Flagelles
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Infertilité masculine
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Mutation
Limites du sujet:
Humans
/
Male
Pays comme sujet:
Asia
langue:
En
Texte intégral:
Asian Journal of Andrology
Année:
2023
Type:
Article