Table 2.
Genomic and clinical data of patients with candidate pathogenic sequence variants
| No. Family_patient | Gene | Chromosomal position | Nucleotide | dbSNP (snp142) | Age, sex, phenotype | Syndrome/references |
|---|---|---|---|---|---|---|
| 22_1 | HUWE1 | X:53627159 | T>C | rs145758265 | 18 years, ♂. ID, behaviour problems, poor coordination, minor facial anomalies, arachnodactyly, abnormality of the aortic valve. | Isrie M et al. (29) |
| OCRL | X:128674722 | C>T | rs61752970 | |||
| PRDX2 | 19:12911055 | C>T | NA | |||
| 23_1 | NTRK1 | 1:156848946 | G>T | rs6339 | 20 years, ♂. ID, epilepsy, behaviour problems, muscular hypotonia, poor coordination, microcephaly, minor facial anomalies. | |
| FLNA | X:153593579 | C>T | NA | Robertson SP (30) | ||
| 24_1 | CDKL5 | X:18638082 | A>C | 10 years, ♂. ID, stereotypy, asymmetric ventricles, minor facial anomalies. | ||
| CREBBP | 16:3786782 | T>G | Rubinstein–Taybi syndrome | |||
| LHX5 | 12:113906140 | G>A | ||||
| 25_1 | SLC9A6 | X:135084373 | G>A | 6 years, ♂. ID, seizures, stereotypy, short stature, microcephaly, hypermetropia, minor facial anomalies. | Gilillan GD et al. (31), Garbern JY et al. (32) | |
| ARHGEF6 | X:135862972 | T>C | Kutsche K et al. (33), Ramakers GJA et al. (34) | |||
| 25_2 | SLC9A6 | X:135084373 | G>A | 10 years, ♂. ID, seizures, stereotypy, hypermetropia, minor facial anomalies. | Gilillan GD et al. (31), Garbern JY et al. (32) | |
| ARHGEF6 | X:135862972 | T>C | Kutsche K et al. (33), Ramakers GJA et al. (34) | |||
| 26_1 | PLCG2 | 16:81922813 | C>T | rs1143687 | 3 years, ♂. DD, epilepsy, pachygyria, polymicrogyria, minor facial anomalies, tall stature. | |
| ALG6 | 1:63902524 | C>G | rs41285372 | Freeze HH et al. (35) | ||
| 27_1 | DSE | 6:116720514 | C>T | 19 years, ♂. ID, behaviour problems, epilepsy, multiple demyelination in CNS, retinal nonattachment, cataract, myopia, minor facial anomalies. | ||
| KIAA0586 | 14:59014563 | G>A | ||||
| TMEM8B | 9:35853517 | C>T | ||||
| CC2D1A | 19:14040896 | G>A | ||||
| ZMAT2 | 5:140081674 | A>G | ||||
| 28_1 | MECP2 | X:153296516 | G>A | rs61749721 | 3 years, ♀. DD, developmental regression, epilepsy, hyperactivity, microcephaly, stereotypy, muscular hypotonia. | Rett syndrome |
| 28_2 | No candidate variants | 5 years, ♀. DD, short stature, microcephaly, transverse palmar crease, café-au-lait spots. | ||||
| 29_1 | CACNA1A | 19: 13372340 | C>T | 9 years, ♀. ID, seizures, stereotypy, minor facial anomalies. | Guerin AA et al. (36), Blumkin L et al. (37), Damaj L et al. (38) | |
| 30_1 | HSPD1 | 2:198363406 | C>T | rs200514123 | 7 years, ♀. ID, muscular hypotonia, minor facial anomalies. | |
| PSPH | 7:56087423 | G>A | rs79451216 | |||
| SGSH | 17:78184679 | C>T | rs9894254 | |||
|
RAB- 3GAP1 |
2:135887597; 2:135893372 |
C>T; A>G |
rs15047834; rs10445686 |
|||
| FGF10 | 5:44305104; 5:44388783 |
T>G; A>C |
rs14771550; NA |
|||
| CASR | 3:122003757 | G>T | rs1801725 | |||
| MBL2 | 10:54531235 | C>T | rs1800450 | |||
| 30_2 | ALDH4A1 | 1:19201928; 1:19199448 |
C>T; G>T |
rs2230709; rs61757683 |
8 years, ♀. ID, muscular hypotonia, hypopigmented spots, minor facial anomalies, strabismus, arachnodactyly. | |
| FZD9 | 7:72849221 | A>C | rs73134914 | |||
| VPS13B | 8:100654723; 8:100847866 |
A>G; C>T |
rs13964022; NA |
|||
| MED12 | X:70345554 | A>G | NA | |||
| 30_3 | ZNF81 | X:47775540 | A>G | 18 years, ♂. ID, behaviour problems, cryptorchidism, minor facial anomalies, kyphosis, pterygium colli. | ||
| MED12 | X:70351463 | C>T | ||||
| 30_4 | CC2D1A | 19:14038791 | C>T | rs2305777 | 10 years, ♂. ID, macrocephaly, obesity, minor facial anomalies. | |
| ORC1 | 1:52838992 | A>G | rs34521609 | |||
| ARSH | X:2933233 | G>A | rs142811205 | |||
| L1CAM | X:153137616 | T>C | NA | |||
| ANK3 | 10:61802477; 10:61828954 |
C>T; G>A |
rs14193931; rs7923682 |