From: Sacral agenesis: a pilot whole exome sequencing and copy number study
Subjects | Genes | Nucleotide variants | RsID | MAF (in %) | Aminoacidic variants | OMIM Associated Disease | Functional Role | Mutation status |
---|---|---|---|---|---|---|---|---|
CR5C | ||||||||
 | SPTBN5 | c.73G > A | – | – | p.(Glu25Lys) | – | interaction of cytoskeletal filament with other components of the cell [47] | De novo |
 | PDZD2 | c.3317C > T | rs34748216 | 0.763 | p.(Ser1106Phe) | – | insulin regulation [52] | H |
 | PKHD1L1 | c.8291A > C c.11969G > A | rs118074609/ rs146831382 | 0.713/0.081 | p.(Asn2764Thr)/p.(Gly3990Glu) | – | cellular immunity [65] | CH |
 | GLTSCR2 | c.568C > T c.851C > T | rs34462252/ rs200463741 | 0.163/0.704 | p.(Arg190Trp)/p.(Thr284Met) | – | PTEN regulation [66] | CH |
 | PTEN | c.235G > A | rs202004587 | – | p.(Ala45Thr) | VATER association with macrocephaly and ventriculomegaly | growth regulation and tumorigenicity of human glioblastoma cells [22] | HET |
 | VANGL1 | c.1013C > A | rs74117015 | – | p.(Ser338Ter) | Caudal regression syndrome | Regulation of growth of human hepatoma cells [20] | HET |
CR17C | ||||||||
 | ARHGEF16 | c.784A > G c.1477C > T | –/– | –/– | p.(Thr262Ala)/p.(Leu493Phe) | – | guanyl-nucleotide exchange factor | CH |
 | KIF1A | c.4781C > T c.2522A > T | rs201825284/– | 0.011/– | p.(Ser1594Leu)/p.(Asn841Leu) | mental retardation, spastic paraplegia-30, neuropathy | synaptic-vesicle transportation [67] | CH |
 | CLTCL1 | c.4859G > A c.130G > T | rs5748024/ rs34869740 | 0.787/0.855 | p.(Arg1620His)/p.(Val44Phe) |  | intracellular trafficking of the glucose transporter GLUT4 [68] | CH |
CR41C | ||||||||
 | MORN1 | c.319G > A | – | – | p.(Gly107Arg) | cardiomyopathy, hypertrophic-17 | intracellular ion chanel communication [69] | De novo |
 | DNAH10 | c.4846G > A c.10859C > T | rs376989344/rs202063832 | 0.012/0.421 | p.(Ala1616Thr)/p.(Thr3620Leu) | primary ciliary dyskinesia | inner arm dynein heavy chain [70] | CH |
CURR20C | ||||||||
 | ZNF330 | c.6_7insT | – | – | p.(Lys3fs) | – | – | De novo |
 | VPS18 | c.1697A > G c.1823G > A | rs373608134/rs34865655 | 0.023/0.605– | p.(Tyr566Cys)/p.(Arg608His) | – | protein transportation to the vacuole [71] | CH |
 | PKD1L2 a | c.6241_6242ins19ntb c.706_707delAA | –/rs55980345 | –/– | p.(Thr2081fs)/p(Asn236fs) |  | – | CH |