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| Mendeliome v2.309 | MATN2 | chirag patel Marked gene: MATN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.309 | MATN2 | chirag patel Gene: matn2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.309 | MATN2 | chirag patel Marked gene: MATN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.309 | MATN2 | chirag patel Gene: matn2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.309 | MATN2 |
chirag patel gene: MATN2 was added gene: MATN2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MATN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MATN2 were set to 35584218 Phenotypes for gene: MATN2 were set to Syndromic disease, MONDO:0002254 Review for gene: MATN2 was set to RED Added comment: PMID 35584218 reports 3 individuals from 3 families presenting with non-specific or consistent multisystem issues (limited clinical information in paper). They identified biallelic variants in MATN2 which is a basement membrane gene (compound HTZ p.Cys249Ser missense and c.1450+1G>A splice variants; homozygous p.Cys529Valfs*13 frameshift variant; and homozygous c.1081+3_1081+6del splice variant). Functional assays in podocytes demonstrate defective secretion or translation of the mutant proteins, supporting loss‑of‑function. CRISPR-Cas9 knockdown of MATN2 nearly abolished the ECM fraction of MATN2, which was rescued by over expression of wild-type V5-tagged MATN2. Overexpression of the MATN2 p.Cys249Ser-V5 missense variant resulted in MATN2 accumulation in the cellular fraction, suggesting a defect in secretion. Minigene splicing assay confirmed aberrant splicing and the introduction of a premature stop codon for the predicted splicing variant (c.1081+3-1081+6del). Podocyte-derived matrix by proteomics showed decreased levels of core basement membrane components (nidogen and collagen IV). Sources: Literature |
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