SNAI2 – Waardenburg syndrome type II

SNAI2 has been included among six genes screened for WS2 in multiple cohorts, including 18 Chinese WS probands (15 families) (PMID:20478267), updated mutation databases of 49 probands (PMID:20127975), and six Chinese families screened for six WS genes (PMID:31812001). However, no pathogenic SNAI2 coding variants or copy-number changes were reported in these series despite exhaustive exon and CNV analyses.

Mode of inheritance is autosomal dominant. No probands with segregating SNAI2 variants have been described, and no functional assays have directly assessed SNAI2 perturbation in WS2. Therefore, the gene–disease association strength is classified as Limited based on absence of genetic or experimental confirmation.

Key Take-home: SNAI2 screening in Waardenburg syndrome panels remains investigational; additional probands and functional validation are required to substantiate its role in WS2.

References

• Biochemical and biophysical research communications • 2010 • Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. PMID:20478267
• Human mutation • 2010 • Review and update of mutations causing Waardenburg syndrome. PMID:20127975
• International journal of pediatric otorhinolaryngology • 2020 • The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families. PMID:31812001

Evidence Based Scoring (AI generated)