Table 5.
Gene sequencing result of 29 patients with neurological diseases.
| Patient No. | Gene | Position | Nucleotide variant | Protein variant | Inheritance pattern |
|---|---|---|---|---|---|
| 1 | COMP | chr19:18896846 | c.1418A > G | p.D473G | AD |
| 2 | DYNC1H1 CRYBB2 |
chr14:102499762 chr22:25627591 |
c.10354G > A c.470C > G |
p.A3452T p.P157R |
AD |
| 3 | ADNP | chr20:49520469 | c.64dupA | p.I22fs | AD |
| 4 | SYNE2 | chr14:64675492 | c.18218T > C | p.I6073T | AD |
| 5 | COL6A3 | chr2:238245098 chr2:238275918 |
c.8645C > T c.4912G > A |
p. P2882L p.A1638T |
AD/AR |
| 6 | CHD2 | chr15:93498742 | c.1809G > T | p.K603N | AD |
| chr15:93498743 | c.1809+1G > T | Splicing | |||
| 7 | HCFC1 | chrX:153220254 | c.3596G > C | p.R1199P | XR |
| 8 | SUCLG1 | chr2:84652709 chr2:84660557 |
c.884G > A c.592A > G |
p.V282I p.I198V |
AR |
| 9 | SMARCAL1 | chr2:217285085 | c.926G > A | p.S309N | AR |
| chr2:217332750 | c.2225C > T | p.T742M | |||
| 10 | MTHFR | chr1:11856378 | c.665C > T | p.A222V | AR |
| chr1:11863038 | c.136C > T | p.R46W | |||
| 11 | CDKL5 | chrX:18582616 | c.119C > T | p.A40V | XD |
| 12 | PDGFRB | chr5:149512504 | c.936G > C | p.E312D | AD |
| 13 | TUBA1A | chr12:49579133 | c.1016G > T | p.R339L | AD |
| 14 | SMC1A | chrX:53441721 | c.331T > G | p.F111V | XD |
| 15 | HUWE1 | chrX:53578276 | c.9047A > C | p.E3016A | Unknown |
| MAPT | chr17:44060834 | c.664C > G | p.R222G | AD | |
| 16 | MECP2 | chrX:153296153 | c.1162C > T | p.P388S | XD/XR |
| KCNC1 | chr11:17793707 | c.1066G > A | p.V356M | AD | |
| 17 | DYNC1H1 XDH | chr14:102463472 chr2:31596756 chr2:31598377 |
c.3665A > G c.1669G > A c.1471G > A |
p.N1222S p.D557N p.A491T |
AD AR |
| 18 | IGHMBP2 | chr11:68702842 chr11:68704545 |
c.1708C > T c.2598_2599del |
p.R570X p.K866Sfs |
AR |
| 19 | CHD2 | chr15:93563380 | c.5045A > G | p.D1682G | AD |
| CSF1R | chr5:149433641 | c.2909_2910insATCA | p.Q970fs | AD | |
| EZH2 | chr7:148544336 | c.55G > A | p.V19I | AD | |
| 20 | ND | ND | ND | ND | ND |
| 21 | ND | ND | ND | ND | ND |
| 22 | ND | ND | ND | ND | ND |
| 23 | ALDH7A1 | chr5:125919644 | c.454A > G | p.I152V | AR |
| 24 | ND | ND | ND | ND | ND |
| 25 | ND | ND | ND | ND | ND |
| 26 | SLC22A5 | chr5:131728257 | c.1400C > G | p.S467C | AR |
| 27 | ND | ND | ND | ND | ND |
| 28 | ND | ND | ND | ND | ND |
| 29 | ND | ND | ND | ND | ND |
Twenty one of Twenty nine patients have been sequenced with a suspected gene, however, 2 of them have not corresponded with the inheritance pattern, i.e., autosome recessive gene with only one mutation. AD, autosomal dominant; AR, autosomal recessive; XD, X-linked dominant; XR, X-linked recessive; ND, not detected with related mutations.