Sanger sequencing the exon 2 of the gene PDE4D in DNA samples of an affected individual and his parents

This dataset contains chromatograms obtained by Sanger sequencing the exon 2 of <em>PDE4D </em>gene in DNA samples of the affected individual diagnosed with Acrodysostosis type 2 (ACRDYS2; autosomal dominant inheritance) and his parents. Sequencing was performed to identify the genetic cause of ACRDYS2 and to perform a family segregation analysis. Heterozygous d<em>e novo</em> DNA variant was identified in the affected individual's DNA. PDE4D_ex2_P_F.ab1 is a chromatogram of exon 2 of <em>PDE4D </em>gene of the affected individual's (proband's) DNA sample with a heterozygous variant (position 375 in this chromatogram where reference G nucleotide and alteration C is detected) PDE4D_ex2_M_F.ab1 is a chromatogram of exon 2 of <em>PDE4D </em>gene of the mother's DNA sample (position 372 depicts the same G nucleotide which is changed in proband's DNA but no variant in mother's DNA) PDE4D_ex2_T_F.ab1 is a chromatogram of exon 2 of <em>PDE4D </em>gene of the father's DNA sample (position 372 depicts the same G nucleotide which is changed in proband's DNA but no variant in father's DNA)