Table 2 Pathogenic variants identified in this study
ID | Sex | Gene | Genomic position (hg19) | cDNA Change | Protein Change | Effect | Status | GERP | Mutation Taster | SIFT | CADD | Inferred effect (ACMG) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | F | MECP2 | X:153296096 | NM_004992.3 c.1157_1186delinsA | p.(Leu386Hisfs*9) | Frameshift | HET | 5.49 | Disease causing | – | – | Likely pathogenic |
12 | F | MECP2 | X:153296882 | NM_004992.3 c.397C > T | p.(Arg133Cys) | Missense | HET | 5.24 | Disease causing | Damaging | 34 | Pathogenic |
13 | F | MECP2 | X:153296777 | NM_004992.3 c.502C > T | p.(Arg168*) | Stop gained | HET | 5.48 | Disease causing | Damaging | 38 | Pathogenic |
21 | F | TPP1 | 11:6638385 | NM_000391.3 c.509-1G > C | – | Altered acceptor site (HSF) | HOM | 4.43 | Disease causing | – | 31 | Pathogenic |