Table 6.
WES identified 25 variants in COA/UAB-14. Information on each variant (mutation) including gene name, mutation location, mutation type, and known functions/pathways of normal gene product.
| Ch#+ | Gene | Mutation | Mutation Type | Known functions/pathways of normal gene product |
|---|---|---|---|---|
| 1* | CROCC | p.Lys1754Arg/c.5261 A > G | Missense | Structural component of the ciliary rootlet, a component of centrosome cohesion |
| 2 | RHOQ | p.Met80Val/c.238 A > G | Missense | Epithelial cell polarization |
| 2 | RHOQ | p.Met1?/c.1 A > G | Missense | Epithelial cell polarization |
| 2 | GPAT2 | p.Arg621Cys/c.1861C > T | Missense | Regulates glycerolipid biosynthesis |
| 4 | CRIPAK | p.Cys338Arg/c.1012 T > C | Missense | Negative regulator of estrogen receptor signaling, regulates cytoskeleton organization |
| 6 | UTRN | p.Arg297Gln/c.890 G > A | Missense | Cytoskeleton/plasma membrane anchoring |
| 8 | DOCK5 | p.Arg1627Gln/c.4880 G > A | Missense | Scaffold structure, MAP kinase pathway activation |
| 8 | PSKH2 | p.Cys3Gly/c.7 T > G | Missense | Protein serine/threonine kinase activity |
| 9 | RNF20 | p.Arg368Trp/c.1102 C > T | Missense | Epigenetic transcriptional activation and gene regulation |
| 10 | SUFU | p.Ser79Asn/c.236 G > A | Missense | Negative regulator of hedgehog signaling, negative regulator of beta-catenin signaling |
| 11 | MUC2 | p.Thr1549Asn/c.4646 C > A | Missense | Maintain gastrointestinal epithelium, epithelial cell differentiation |
| 11 | KRTAP5–7 | p.Cys120Tyr/c.359 G > A | Missense | Keratin intermediate filament protein |
| 11 | CCDC83 | Splice site acceptor | ||
| 11 | KRTAP5–7 | p.Tyr98Cys/c.293 A > G | Missense | Hair keratin formation |
| 12 | ATF7IP | p.Lys529Arg/c.1586 A > G | Missense | Modulates transcription elongation and histone methylation |
| 15 | LYSMD4 | p.Arg49Trp/c.145 C > T | Missense | LysM domain containing 4, function not well characterized |
| 17 | AATF | Start gained | Inhibits histone deacetylase HDAC1 | |
| 17 | KRTAP4–8 | p.Thr173Ser/c.518 C > G | Missense | Keratin-associated protein 4–8 |
| 17 | KRTAP4–9 | p.Asn148Thr/c.443 A > C | Missense | Keratin-associated protein 4–9 |
| 17 | GRIN2C | p.Val34Met/c.100 G > A | Missense | Involved in excitatory neurotransmission and in neuronal cell death |
| 19 | ONECUT3 | p.Ser313Arg/c.937 A > C | Missense | Transcriptional activation, cell differentiation, system development |
| 19 | MYO1F | p.Arg617Cys/c.1849C > T | Missense | Actin binding function, cell motility |
| 19 | CYP2A6 | p.Lys125Met/c.374 A > T | Missense | Drug metabolism, heme binding; steroid metabolism |
| 19 | LSM14A | Splice site acceptor | Multicellular organism development; regulation of translation | |
| x | AR | p.Gln58Leu/c.173 A > T | Missense | Androgen receptor involved in gene expression, cell proliferation and differentiation |
+Chromosome number.
*CADD score ≥ 20.