Table 5.

Genes of Interest in the Differential Diagnosis of Waardenburg Syndrome Type I

Gene(s)DisorderMOIClinical Features / Comment
KITLG
MITF
SNAI2
SOX10 		WS2 (OMIM PS193500)AD
AR		MITF pathogenic variants account for ~10%-20% of WS2. SNAI2 pathogenic variants were reported in 2 persons w/features overlapping w/WS2. SOX10 pathogenic variants account for ~15% of WS2. (Temporal bone abnormalities 1 are reported in persons w/SOX10 pathogenic variants. 2)
EDN3
EDNRB
SOX10 		WS4 (OMIM PS193500)AD
AR		Pigmentary abnormalities, hearing loss, & Hirschsprung disease 3
KIT
SNAI2 		Piebaldism (OMIM 172800)ADPiebaldism has some pigmentary features in common w/WS. A white forelock is common, as well as absent pigmentation of medial forehead & eyebrows. Absent pigmentation of chest, abdomen, & limbs is also common. Presence of hyperpigmented borders surrounding unpigmented areas is characteristic. Heterochromic irides & sensorineural deafness are rarely described.
MITF Tietz syndrome (OMIM 103500)ADAlbinism & deafness

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; WS = Waardenburg syndrome; WS2 = Waardenburg syndrome type II; WS4 = Waardenburg syndrome type IV

1.

Bilateral agenesis or hypoplasia of the semicircular canals with a cochlear deformity and enlarged vestibule

2.
3.

From: Waardenburg Syndrome Type I

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