Table 1.
Candidate Variants/Genes From Exome Sorting
| Chromosomal location | Gene | Protein | Coding change | Protein change | MARRVEL‐other associations |
|---|---|---|---|---|---|
| Chromosome 1: 222,629,984–222,629,985 | TANGO1 | Transport and Golgi organization protein 1 homolog (TANGO1) | c.2770_2773del | p.(Leu924Serfs*) | Protein transport; chondrocyte development, collagen fibril organization and positive regulation of bone mineralization (M. musculus) |
| Chromosome 17: 81,823,317–81,823,318 | MCRIP1 | Mapk‐regulated corepressor‐ interacting protein 1 | c.323del | p.(Pro108Leufs*) | Regulation of epithelial‐mesenchymal transition |
| Chromosome 20: 37,179,387–37,179,388 | MROH8 | Maestro heat‐like repeat‐containing protein family member 8 | c.93_93 + 1insAGTGCCGGC CGCGGGGCCCTGTCTAT AAG | p.(His32Serfs*) | Exact function of MROH8 is not known, but GWAS associated this gene with Alzheimer's disease( 24 ) |
| Chromosome 9: 96,931,892–96,931,893 | NUTM2G | NUT family member 2G | c.187C>T | p.(Pro63Ser) | Exact function of NUTM2G is not known |
| Chromosome 12: 40,490,439–40,490,440 | MUC19 | Mucin‐19 | c.17500_17501insCATCAGC TGCTGTGACTGGGTCAGC TGGACTATCAGCTGGGGT GACAGGGACAACTGGAC | p.(Gly5833_Gln5834ins ProSerAlaAlaValThrGly SerAlaGlyLeuSerAlaGly ValThrGlyThrThrGly) | TN polyagglutination syndrome, colorectal cancer; inflammatory response, hematopoietic progenitor and salivary gland cell differentiation (M. musculus) |
| Chromosome 17: 41,190,343–41,190,344 | KRTAP9‐1 | Keratin‐associated protein 9‐1 | c.483_484insAGCTGTGGGT CCAGCTGCTGCCAGCCT | p.(Pro161_Cys162ins SerCysGlySerSerCysCys GlnPro) | Keratinization |
SeqPlorer and MARRVEL (http://www.marrvel.org/) were used to sort the variants from most likely pathogenic (top) to probably pathogenic (bottom) and to investigate the functional annotation of these genes and rare variants, respectively. The variant in the TANGO1 gene is listed as the best candidate.MARRVEL = Model Organism Aggregated Resources for Rare Variant Exploration.