Figure 1.

2 novel heterozygous mutations in ATM causing variant AT. A mutation was found in the consensus splice donor site in intron 14 at position+2, T > G, predicting addition of EENLYX with premature stop. A second missense mutation C5825T was found, leading to A1942V in conserved exon 41. Neither mutation is located in the catalytic serine threonine kinase domain or TAN motif, which is a p53 binding site involved in response to double stranded DNA breaks and regulating telomere length.