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| Mendeliome v1.3050 | NXT2 |
Rylee Peters gene: NXT2 was added gene: NXT2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NXT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NXT2 were set to PMID: 40624043; 35013161 Phenotypes for gene: NXT2 were set to Spermatogenic failure, MONDO:0004983, NXT2-related Review for gene: NXT2 was set to AMBER Added comment: PMID: 40624043 - 1x hemi male with maternally inherited p.(Asp119*) – (p.Asp64* in MANE transcript) – absent from v4. Variant also present in two infertile brothers with azoospermia; absent in fertile father and brother. Over expression of the variant in HEK293T cells resulted in the complete absence of the truncated protein according to Western blot analysis. - 1x hemi male with p.(Ala90Ser) – (p.Ala35Ser in MANE transcript) – 85 hets, 42 hemis in v4. Variant is located near the start of an exon, minigene assay showed exon 4 skipping resulting in a PTC, but no quantification of aberrant transcript expression was performed. Over expression of the variant in HEK293T cells showed comparable protein expression to WT, and NXT2 staining was present in SOX9-positive Sertoli cells in the patient’s testis. - Above article also refers to an individual described in PMID: 35013161 – 1x male individual with a de novo 42 kb large deletion on the X chromosome encompassing the entire NXT2 gene. Sources: Literature |
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