case_images: PMC10951377_01
case_images: Clinical phenotypes and genetic analysis in the family. (A) The proband (II-3) presented with prominent eyebrows, thick hair, and coarse facial features. (B) Pedigree of the family. (C) Sanger sequencing confirmed the KCNT2 variant c.188G>A (p.Arg63His) in the proband and her two brothers (II-2 and II-4), and not in her clinically normal daughter (red arrow). (D) The Arg63 residue is highly evolutionarily conserved among different species.
case_images: fgene-15-1371282-g001.jpg
case_images: PMC10951377_02_fgene-15-1371282-g001.jpg
case_images: F1
case_images: In the proband's pedigree (Figure 1B), similar clinical phenotypes were observed in two elder brothers (II-1 and II-2), a younger brother (II-4), and their mother (I-2), who had passed away. Sanger sequencing confirmed the variant (Figure 1C). The variant p.Arg63His, found at a low frequency (2 out of 230,620 alleles) in the gnomAD database, is located at the junction of the N-terminal domain and S1 domain, showing high evolutionary conservation among different species (Figure 1D).
case_images: PMC10951377_02
case_images: Clinical phenotypes and genetic analysis in the family. (A) The proband (II-3) presented with prominent eyebrows, thick hair, and coarse facial features. (B) Pedigree of the family. (C) Sanger sequencing confirmed the KCNT2 variant c.188G>A (p.Arg63His) in the proband and her two brothers (II-2 and II-4), and not in her clinically normal daughter (red arrow). (D) The Arg63 residue is highly evolutionarily conserved among different species.
case_images: fgene-15-1371282-g001.jpg
case_images: PMC10951377_02_fgene-15-1371282-g001.jpg
case_images: F1
case_images: In the proband's pedigree (Figure 1B), similar clinical phenotypes were observed in two elder brothers (II-1 and II-2), a younger brother (II-4), and their mother (I-2), who had passed away. Sanger sequencing confirmed the variant (Figure 1C). The variant p.Arg63His, found at a low frequency (2 out of 230,620 alleles) in the gnomAD database, is located at the junction of the N-terminal domain and S1 domain, showing high evolutionary conservation among different species (Figure 1D).