Table 1. .
Family | LOD at θ=0 | Marker | Pathogenic TRIC Mutation |
PKDF399 | 2.6 | D5S647 | IVS3-1G→A |
PKDF058 | 2.4 | D5S647 | IVS4+2delTGAG |
PKDF156 | 5.8 | GATA141B10 | IVS4+2delTGAG |
PKDF141 | 5.8 | D5S589 | IVS4+2T→C |
PKDF443 | 1.7 | D5S647 | IVS4+2T→C |
PKDF462 | 1.7 | GATA141B10 | IVS4+2T→C |
PKSR12 | 1.8 | D5S647 | IVS4+2T→C |
PKDF340 | 6.1 | GATA141B10 | c.1498C→T p.R500X |
Note.— Nucleotide changes are numbered according to the first coding ATG in exon 2 of TRIC-a. LOD scores were calculated using parameters described elsewhere.26 Briefly, the disease was coded as fully penetrant, and the disease-allele frequency was set at 0.001. Meiotic recombination fractions were assumed to be equal for males and females. The three splice-site mutations of TRIC shown here were not found in at least 400 control chromosomes. See figure 3C and 3D for the predicted truncated tricellulin proteins resulting from each the three frameshifting splice-site mutations.