Table 4.
Clinical characteristics of four patients having a variant of additional candidate genes.
| No. | Sex | Age | Onset time | Proportion | Genetic variants | Neurocognitive function | Dysmorphic face | Accompanying anomalies | Epilepsy | Other features | Disorder | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Inheritance | Zygosity | De novo | Refseq | Nucleotide | Amino acid change | 2015 ACMG | |||||||||||
| M-001 | F | 11m | PM | P | JARID2 | AD | Het | + | NM_004973.3 | c.2123A>C | p.(Tyr708Ser) | VUS | Uncheckable | Vague | Holoprosen-cephaly | IS → LGS | None | Epileptic encephalopathy |
| M-100 | M | 5y11m | PM | P | RFX7 | AD | Het | + | NM_022841.6 | c.2727_2730dup | p.(Gly911PhefsTer58) | VUS | Uncheckable | Vague | None | None | None | Intellectual disability |
| M-118 | M | 4y4m | PM | DP | LMNB1 | AD | Het | + | NM_005573.3 | c.1091T>C | p.(Leu364Pro) | VUS | Uncheckable | Vague | Subependymal heterotopia | LGS | None | Epileptic encephalopathy |
| M-122 | M | 1y5m | PM | P | HPRT1 | XLD | Hemi | – | NM_000194.3 | c.151C>T | p.(Arg51Ter) | VUS | Uncheckable | Vague | Valgus of ankle | None | Café au lait spot | Neurofibro-matosis |
2015 ACMG, 2015 American College of Medical Genetics and Genomics and Association for Molecular Pathology guideline; AD, autosomal dominant; DP, disproportionate; Hemi, hemizygous; Het, heterozygous; IS, infantile spasms; LGS, Lennox-Gastuat syndrome; P, proportionate; PM, primary microcephaly; SQ, social quotient; VUS, variant of uncertain significance; XLD, X-linked dominant.