Fig. 2
From: Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report
Identification of a de novo variant in the SOX10 gene [transcript ID: NM_006941.3; variant c. 175 C > T (p. Q59X)]. (A) Sanger sequencing of the family. (a) The proband was identified to have the novel variant, while her (b) father, (c) mother and (d and e) two sisters exhibited the wild-type genotype. (B) Family tree of the Waardenburg syndrome type 2 pedigree. The arrow indicates the proband. +/- represents the heterozygous SOX10-p. Q59X variant. -/- represents wild-type. (C) Affected region of the novel variant. HMG, high mobility group DNA-binding domain; D, dimerization domain; E, conserved domain of SOX10; TA, transactivation domain; SOX10, sex-determining region Y-box containing gene 10