Table 2. Family MRQ14 homozygous and compound heterozygous variant validation using Sanger sequencing and in silico pathogenecity predictions.
| Gene (NM ID) | Protein function | cDNA change | Amino acid change | PhyloP score | Grantham distance | SIFT | Mutation taster | Polyphen2 | Zygosity | Segregation in family |
| NME7 (NM_013330.4) | Unknown | c.38C>T | p.(Arg13Gln) | 5.53 | 43 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| PPP1R9A (NM_001166160.1) | Nervous system development | c.1387C>T | p.(Pro463Ser) | 5.29 | 74 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| DYM (NM_017653.3) | Dyggve-melchior-clausen disease, 223800 (3); smith-mc-Cort dysplasia, | c.1205A>T | p.(Leu402*) | 4.571 | 1000 | Unknown | Unknown | Unknown | Homozygous | No |
| DLG1 (NM_004087.2) | Cell to cell adhesion, nervous system involvement | c.574T>C | p.(Ile192Val) | 4.518 | 29 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| KMT2B ( MLL4 ) (NM_014727.1) | Unknown | c.2456C>T | p.(Pro819Leu) | 4.429 | 98 | Tolerated | Disease causing/polymorphism | Probably damaging | Homozygous | Yes |
| EHMT2 (NM_006709.3) | Chromatin modification, biological process and nervous system involvement | c.1151C>T | p.(Arg384Gln) | 3.503 | 43 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| VAV2 (NM_001134398.1) | Nervous system phenotype | c.2495A>G | p.(Met832Thr) | 3.138 | 81 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| PLCD4 (NM_032726.2) | Intercellular signaling cascade | c.1885C>T | p.(Leu629Phe) | 2.9 | 22 | Deleterious | Disease causing | May be damaging | Homozygous | No |
| ZNF227 (NM_182490.2) | Regulation of transcription, DNA-dependent | c.956C>T | p.(Thr319Ile) | 2.715 | 89 | Deleterious | Polymorphism | May be damaging | Homozygous | No |
| SMEK1 (NM_032560.4) | Unknown | c.2239A>C | p.(Ser747Ala) | 3.03 | 98 | Tolerated | Disease causing | Not damaging | Homozygous | No |
| UGT8 (NM_001128174.1) | CNS development | c.359A>G | p.(Asn120Ser) | 2.47 | 46 | Tolerated | Disease causing | Not damaging | Homozygous | No |
| DNAH17 (NM_173628.3) | Microtubule-based movement, ciliary or flagellar motility | c.12599A>C | p.(Val4200Gly) | 4.821 | 109 | Deleterious | Unknown | Probably damaging | Heterozygous | No |
| DNAH17 (NM_173628.3) | Microtubule-based movement, ciliary or flagellar motility | c.12267C>T | p.(Met4089Ile) | 5.974 | 10 | Deleterious | Unknown | Probably damaging | Heterozygous | No |
| SACS (NM_014363.5) | Protein folding | c.10291C>G | p.(Val3431Leu) | 4.266 | 32 | Deleterious | Disease causing | Probably damaging | Heterozygous | No |
| SACS (NM_014636.2) | Protein folding | c.5461A>G | p.(Cys1821Arg) | 2.631 | 180 | Deleterious | Disease causing | Probably damaging | Heterozygous | No |
| TEP1 (NM_007110.4) | Telomere maintenance via recombination | c.3519>C | p.(Lys1174Glnfs*16) | 2.109 | 1000 | Unknown | Unknown | Unknown | Heterozygous | No |
| TEP1 (NM_007110.4) | Telomere maintenance via recombination | c.1817G>A | p.(Pro606Leu) | 3.26 | 98 | Tolerated | Polymorphism | Not damaging | Heterozygous | No |
NM, mRNA accession number; PhyloP, Phylogenetic P-values; Polyphen, Polymorphism phenotyping; SIFT, Sorting intolerance from tolerance, Mutation taster (http://www.mutationtaster.org).