Table 1 Results of genetic variant analysis
Gene name | Base change | Codon change | Variant type | Inheritance | Polyphen-2 | SIFT | Mutation Taster Prediction | Grantham | Protein domain | Clinical relevance | Reported clinical symptoms associated with previously reported gene variants |
|---|---|---|---|---|---|---|---|---|---|---|---|
DPYD | c.1905 + 1G > A | n/a | Heterozygous splice site | Autosomal recessive | n/a | n/a | Disease-causing | n/a | n/a | Pathogenic | Seizures, microcephaly, muscular hypotonia, developmental delay, and sensitivity to 5-FU toxicity |
ADGRV1 | c.5785G > T | p.Ala1929Ser | Heterozygous missense | Autosomal | Damaging | Tolerated | Disease-causing | 99 | Calx:beta 13 | Likely pathogenic vs VUS | Febrile and afebrile seizures, focal epilepsy and SUDEP, Lennox-Gastaut syndrome, myoclonic epilepsy, Usher syndrome |
DYNC1H1 | c.11894C > T | p.Ser3965Phe | Heterozygous missense | Autosomal recessive | Benign | Not Tolerated | Disease-causing | 155 | n/a | Variant of unknown significance | Intellectual disability, malformations in cortical development, West syndrome, epileptic encephalopathy with continuous spikes and waves during slow sleep, spinal muscular atrophy, and Charcot-Marie-Tooth syndrome |
ASPM | c.6711C > A | p.Asn2237Lys | Heterozygous missense | Autosomal dominant | Benign | Tolerated | Polymorphism | 94 | IQ repeat region | Likely benign | Intellectual disability, primary microcephaly |