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. 2008 Dec 15;119(1):91–98. doi: 10.1172/JCI37141

Figure 3. DNA-PKcs mutation analysis.

Figure 3

(A) Family tree of patient ID177 and 12 family members. STR analysis was performed using the polymorphic markers D8S1460, D8S359, D8S531, and AF075268 surrounding the DNA-PKcs gene. Patient ID177 (IV-2) was homozygous for all 4 markers. This allele, defined by the 4 markers, was present heterozygously in both parents (III-5 and -6), the 2 grandmothers who are sisters (II-2 and -7), and 1 uncle (III-8). None of the family members were homozygous for this genotype. (B) Detection of 2 homozygous mutations in the DNA-PKcs gene in patient ID177: a deletion of 3 nucleotides (c.6338_6340delGAG) resulting in deletion of glycine 2113 and a missense mutation (c.9185T→G) resulting in replacement of leucine by arginine at position 3,062. (C) Schematic representation of the DNA-PKcs protein and the 2 identified mutations, delG2113 and L3062R. FATC, FAT C-terminal domain.