Table 2.
Clinical characteristics of 12 patients having pathogenic or likely pathogenic variants via whole exome sequencing.
| 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-011 | F | 9y10m | PM | P | GNB1 | AD | Het | + | NM_002074.4 | c.284T>C | p.(Leu95Pro) | LPV | Uncheckable | Present | Arthrogryposis, club foot | IS → LGS | Epileptic encephalopathy | |
| M-020 | M | 4y7m | SM | P | GNAO1 | AD | Het | + | NM_020988.2 | c.607G>A | p.(Gly203Arg) | LPV | Uncheckable | Present | None | EIEE | Intractable dystonia, DCMP | Epileptic encephalopathy |
| M-036 | M | 4y9m | PM | DP | TCF4 | AD | Het | + | NM_001083962.1 | c.1813C>T | p.(Gln605Ter) | PV | K-ABC 52 ± 9 | None | None | None | Complex febrile seizure | Pitt-Hopkins syndrome |
| SQ 29 | ||||||||||||||||||
| M-039 | F | 10m | PM | DP | ASXL1 | AD | Het | + | NM_015338.5 | c.3115C>T† | p.(Gln1039Ter) | PV | Uncheckable | Present | Cleft palate, choanal atresia, CHD | Infantile onset epilepsy (under control) | Bohring-Opitz syndrome | |
| M-055-P | M | 4y1m | PM | P | SMC1A | XLD | Hemi | – | NM_006306.3 | c.2368C>T | p.(Arg790Trp) | LPV | Uncheckable | Present | Cleft palate, CHD | Infantile onset epilepsy (under control) | Hearing loss | Cornelia De Lange syndrome |
| M-055-S | M | 1y5m | PM | P | SMC1A | XLD | Hemi | – | NM_006306.3 | c.2368C>T | p.(Arg790Trp) | LPV | Uncheckable | Present | Cleft palate, GI malrotation | Infantile onset epilepsy (under control) | Hearing loss | Cornelia De Lange syndrome |
| M-056 | M | 7y2m | PM | P | KMT2A | AD | Het | NA | NM_001197104.1 | c.10217C>G† | p.(Ser3406Ter) | LPV | FSIQ: 51 | Present | Skeletal anomaly | None | Severe constipation | Wiedemann-Steiner syndrome |
| M-073 | F | 4y11m | SM | DP | KMT2A | AD | Het | + | NM_001197104.1 | c.2552_2553dell† | p.(Lys851ArgfsTer14) | PV | Uncheckable | Present | None | None | Cyclic vomiting | Wiedemann-Steiner syndrome |
| M-131 | F | 4y5m | PM | DP | ACTG1 | AD | Het | + | NM_001199954.2 | c.628C>T | p.(Arg210Cys) | LPV | Uncheckable | Present | Cleft lip | None | Baraitser-Winter syndrome | |
| M-143 | M | 2y8m | PM | P | VPS13B | AR | Het | – | NM_017890.4 | c.1950C>A† | p.(Cys650Ter) | LPV | FSIQ: 41 | None | None | None | Cohen syndrome | |
| VPS13B | AR | Het | – | NM_017890.4 | c.9981G>A† | p.(Trp3327Ter) | PV | ASD | ||||||||||
| M-145 | F | 1y1m | PM | DP | EP300 | AD | Het | + | NM_001429.3 | c.1453del† | p.(Gln485ArgfsTer22) | PV | Uncheckable | Present | None | None | Rubinstein-Taybi syndrome | |
| M-149 | M | 6y | PM | P | KMT2D | AD | Het | NA | NM_003482.3 | c.7228C>T | p.(Arg2410Ter) | PV | Uncheckable | Present | Cleft palate, CHD, diaphragmatic hernia | Intractable epilepsy | Kabuki syndrome | |
AD, autosomal dominant; ASD, autism spectrum disorder; AR, autosomal recessive; CHD, congenital heart disease; DP, disproportionate; EIEE, early-infantile epileptic encephalopathy; FSIQ, full scale intelligence quotient; GI, gastrointestinal; IS, infantile spasms; ISCN, International System for Human Cytogenetic Nomenclature; IQ, intelligence quotient; LGS, Lennox-Gastaut syndrome; MICPCH, microcephaly with pontine and cerebellar hypoplasia; P, proportionate; PM, primary microcephaly; SM, secondary microcephaly; SQ, social quotient; XLD, X-linked domiant.
†
Novel variant (n = 5).