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| Infertility and Recurrent Pregnancy Loss v0.38 | DNAH8 | Zornitza Stark Marked gene: DNAH8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.38 | DNAH8 | Zornitza Stark Gene: dnah8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.38 | DNAH8 | Zornitza Stark Classified gene: DNAH8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.38 | DNAH8 | Zornitza Stark Gene: dnah8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.29 | DNAH8 |
Jasmine Chew gene: DNAH8 was added gene: DNAH8 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: DNAH8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH8 were set to 32619401; 32681648; 36308074; 33704367 Phenotypes for gene: DNAH8 were set to Spermatogenic failure 46, MIM# 619095 Review for gene: DNAH8 was set to GREEN Added comment: Literature in OMIM- PMID: 32619401;32681648- multiple cases with multiple morphologic abnormalities of the sperm flagella (MMAF) carrying biallelic variants New papers: i) PMID: 36308074- A novel homozygous frameshift variant in DNAH8 causes MMAF in a consanguineous Pakistani family. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 variant. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Immunofluorescence assay also showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa. ii) PMID: 33704367- Two unrelated infertile Chinese patients with MMAF carrying different compound heterozygous variants. Immunofluorescence assay showed that DNAH8 protein expression was significantly decreased in the sperm tail of the patients, and electron microscopy exhibited an abnormal flagellum ultrastructure, while clinical pregnancy could be achieved by intracytoplasmic sperm injection. Sources: Literature |
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