This variant, formerly titled WAARDENBURG SYNDROME, TYPE 2D, based on the report of Sanchez-Martin et al. (2002), has been reclassified based on the report of Mirhadi et al. (2020).
In 2 of 38 unrelated patients with Waardenburg syndrome (W2; see 193510) and no mutation in the MITF gene, Sanchez-Martin et al. (2002) detected homozygous deletions spanning the entire coding region of the SNAI2 gene. One patient (patient B), a 15-year-old girl born of nonconsanguineous, unaffected parents of Bangladeshi origin, had 4 unaffected sibs. The other patient (patient D) was a 3-year-old boy of nonconsanguineous, unaffected Dutch parents.
Mirhadi et al. (2020) called into the question the findings of Sanchez-Martin et al. (2002) and suggested that the findings may have been a result of a technical artifact. They cited the unpublished observation of a child with a heterozygous 1.7-Mb 8q11.1q11.21 deletion that included the entire SNAI2 gene whose clinical phenotype did not include pigmentation anomalies, deafness, or dysmorphia that would be suggestive of either Waardenburg syndrome or piebaldism.
