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. Author manuscript; available in PMC: 2015 Mar 17.
Published in final edited form as: Genomics. 2012 Jan 25;99(4):202–208. doi: 10.1016/j.ygeno.2012.01.005

Fig. 1.

Fig. 1

Autozygozity mapping and whole-exome sequencing identify homozygous missense mutation in CHST8 in a Pakistani family with PSS non-inflammatory type A. (A) Haplotype analysis in a large consanguineous family with PSS type A. Arrows indicate the key recombination events. (B) Clinical phenotype of an affected individual reveals superficial peeling of the skin. (C) Autozygozity mapping using the Affymetrix 10 K genotyping chip. A maximum LOD score of 10.9 was obtained for a 23 Mb region on chromosome 19. (D) Sanger sequencing of genomic DNA from patients 1–18 confirms presence of a homozygous c.229C>T mutation in affected individuals. Representative electropherograms for control, heterozygous carrier and homozygous affected individuals are shown (red star shows mutated nucleotide).