(part iii) Table summarising findings for each child individually
Child (family) | 12 | 13 | 14 (C) | 15 (C) | 16 (C) |
Necessary criteria | |||||
Infantile hypotonia | Y | Y | Y | Y | Y |
Profound psychomotor retardation | Y | Y | Y | Y | Y |
Convulsive disorders presenting with myoclonias and infantile spasms | Y | Y | Y | Y | Y |
Absence or early loss of visual fixation | Y | N | Y | Y | Y |
Atrophy of optic disc by 2 years | Y | N | Y | Y | Y |
Progressive brain atrophy: affecting cerebellum±brainstem | Y | N | Y | Y | Y |
Supportive criteria | |||||
Dysmorphic features | Y | Y | Y | Y | Y |
Oedema of the face and limbs | Y | Y | Y | Y | Y |
Features contrary to PEHO | |||||
Other features | – | – | – | Microcephaly at birth | Microcephaly at birth |
Abnormal gyral formation | Abnormal gyral formation | ||||
Diagnosis assigned | |||||
Diagnosis assigned | PEHO | PEHO-like | PEHO | PEHO-like | PEHO-like |
Genetics | |||||
Gene | CASK | No pathogenic mutation found | CCDC88A | ||
Inheritance | De novo AD | Homozygous AD | |||
Nucleotide change | c.274C>A | c.2313delT | |||
Protein change | p.(Glu92*Ter) | p.(Leu772*Ter) | |||
ExAC frequency | 0 | 0 | 0 | ||
Pathogenicity* | See ref 38 | See 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.