Table 2

(part iii) Table summarising findings for each child individually

Child (family)121314 (C)15 (C)16 (C)
Necessary criteria
 Infantile hypotoniaYYYYY
 Profound psychomotor retardationYYYYY
 Convulsive disorders presenting with myoclonias and infantile spasmsYYYYY
 Absence or early loss of visual fixationYNYYY
 Atrophy of optic disc by 2 yearsYNYYY
 Progressive brain atrophy: affecting cerebellum±brainstemYNYYY
Supportive criteria
 Dysmorphic featuresYYYYY
 Oedema of the face and limbsYYYYY
Features contrary to PEHO
 Other featuresMicrocephaly at birthMicrocephaly at birth
Abnormal gyral formationAbnormal gyral formation
Diagnosis assigned
 Diagnosis assignedPEHOPEHO-likePEHOPEHO-likePEHO-like
 Gene CASK No pathogenic mutation found CCDC88A
 InheritanceDe novo ADHomozygous AD
 Nucleotide changec.274C>Ac.2313delT
 Protein changep.(Glu92*Ter)p.(Leu772*Ter)
 ExAC frequency000
 Pathogenicity*See ref 38See ref 31
  • Children 1–5 are from family A; children 8–10 are from family B; children 14–16 are from family C.

  • *For each mutation pathogenicity, details are within the paper. Here we give either a reference confirming pathogenicity or where this is unavailable,  the SIFT score ().

  • ExAc, Exome Aggregation Consortium; PEHO, progressive encephalopathy, hypsarrhythmia and optic atrophy; SIFT, Scale Invariant Feature Transform.