case_images: PMC6204170_01
case_images: PMC6204170_02
case_images: (a) Targeted next generation sequencing analysis in genomic DNA of patient. A nonsense mutation in Exon 1 (c.31C>T) changes an arginine (R) codon (CGA) into a translation termination (X) codon (TGA) at amino acid position 11 (p.Arg11Ter). (b) Sanger sequencing analysis in genomic DNA of patient. (c) The mother was heterozygous carrier and the sister had wild type gene sequences.
case_images: CRII2018-6897935.001.jpg
case_images: PMC6204170_02_CRII2018-6897935.001.jpg
case_images: fig1
case_images: The mother was heterozygous carrier for this mutation and his sister did not have any mutation in CD40LG gene (Figure 1).