Table 3 Validation of recently reported genes as associated with specific disorders
From: Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Gene | Transcript | Inheritance, zygosity | cDNA change | AA change | Family segregation | Significance | Symptoms of patient (in HPO terms) |
|---|---|---|---|---|---|---|---|
KCTD3 | NM_016121.3 | AR, homozygous | c.1036_1073del | p.(P346Tfs*4) | Inherited from parents | Likely Pathogenic | Hydrocephalus, delayed speech and language development, seizures, global developmental delay, Dandy–Walker malformation, polymicrogyria, abnormality of the cerebral white matter, abnormal cortical gyration |
PPOX | NM_000309.3 | AR, homozygous | c.1108_1119del | p.(G370_W373del) | Inherited from parents | Likely Pathogenic | Nystagmus, hypopigmentation of the skin, seizures, leukodystrophy, ichthyosis, primary adrenal insufficiency, abnormality of the heme biosynthetic pathway, neonatal asphyxia, inappropriate crying |
SCN1B | NM_001037.4 | AR, homozygous | c.449-2A>G | — | Inherited from parents | Likely pathogenic | Global developmental delay, hyperreflexia, generalized myoclonic seizures, muscular hypotonia of the trunk, feeding difficulties, epileptic encephalopathy |
SCN3A | NM_006922.3 | AD, heterozygous | c.3998C>T | p.(P1333L) | De novo | VUS | Seizures, generalized tonic-clonic seizures, febrile seizures, delayed myelination |
PTPN23 | NM_015466.2 | AR, homozygous | c.904A>G | p.(M302V) | Inherited from parents | VUS | Microcephaly, delayed speech and language development, seizures, spasticity,global developmental delay, motor delay, developmental regression, brain atrophy, abnormality of movement |
FRMPD4 | NM_014728.3 | AR, homozygous | c.380C>T | p.(P127L) | Inherited from parents | VUS | Intellectual disability |
