From: Three novel variants in SOX10 gene: Waardenburg and PCWH syndromes
Patient | Gene | Variant nomenclature | Exon | Zygosity | Effect | Variant classification (ACMG criteria) | Inheritance | Patient’s phenotype |
---|---|---|---|---|---|---|---|---|
1 | SOX10 | c.395C>G p.(Ala132Gly) | 2 | Het | missense | PV (PS2, PM1, PM2_supporting, PP2, PP3, PP4) | AD | Bright blue eyes (partial heterochromia iridis), hypopigmentation of hair and skin, pes cavus and hearing loss. Megacolon and gastroesophageal reflux. Peripheral neuropathy, language retardation, asymmetric pain and neuromas |
2 | SOX10 | c.850G>T p.(Glu284*) | 4 | Het | nonsense | LPV (PVS1_strong, PM2_supporting, PP4) | AD | Hirschprung disease and dysphagia. Abnormal reflexes, head jerks, limb tremor and rotating eye movements |
3 | SOX10 | c.966dupT p.(Ala323fs*79) | 4 | Het | frameshift | PV (PVS1_strong, PS2, PM2_supporting, PP4) | AD | Hirschprung disease and hearing loss. Normal neurological evaluation |