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Table 1 Variants of the SOX10 gene identified in massive sequencing studies of the human exome in peripheral blood (ExoNIM®, NIMGenetics, Spain) of the three patients

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

  1. Het heterozygous, VUS variant of uncertain significance, LPV likely pathogenic variant, PV pathogenic variant, AD Autosomal dominant, WS Waardenburg syndrome