Table 1 Summary of Top Candidate Genes with Rare, Likely Deleterious Variants Linked to NPC Identified in the Taiwan NPC Family Whole Exome Sequencing Study.
Gene Name | Chromosome | Position | Reference | Variant | Change Observed | ID of Family(ies) Where Variant Observed | No. of Affected/ Obligate Carriers/Unaffected Sequenceda |
|---|---|---|---|---|---|---|---|
Genes/Variants Prioritized Based on Literature Review | |||||||
BCL2L12 | chr19 | 50169135 | C | T | Nonsynonymous | 6016, 4061 | 4/0/0 |
BRD2 | chr6 | 32948153 | A | T | Nonsynonymous | 4105, 1003, 3002 | 6/0/0 |
CLPTM1L | chr5 | 1320735 | G | A | Nonsynonymous | 6014 | 2/1/0 |
DLL3 | chr19 | 39991273 | A | G | Nonsynonymous | 4013 | 3/0/0 |
HNRNPU | chr1 | 245021539 | T | C | Nonsynonymous | 3050, 4060, 5078 | 6/0/0 |
ITGB6 | chr2 | 160993948 | C | T | Nonsynonymous | 5013 | 2/0/1 |
MLH1 | chr3 | 37067192 | C | T | Nonsynonymous | 3001 | 2/1/1 |
NEDD4L | chr18 | 56002735 | G | A | Nonsynonymous | 3033 | 2/0/1 |
NIPAL1 | chr4 | 48032135 | A | G | Splice Variant | 4082 | 4/0/0 |
NOTCH1 | chr9 | 139399922 | C | T | Nonsynonymous | 5098 | 2/1/0 |
PRKDC | chr8 | 48749063 | C | T | Nonsynonymous | 6014 | 2/1/0 |
RAPGEF3 | chr12 | 48131365 | TCGGGAGAGG | T | Nonframeshift Deletion | 5098 | 2/1/0 |
RAPGEF3 | chr12 | 48143184 | G | A | Nonsynonymous | 1062 | 2/1/2 |
Additional Genes/Variants Prioritized Based on IPA Pathway Analysis | |||||||
LFNG | chr7 | 2565127 | C | T | Nonsynonymous | 6014 | 2/1/0 |
MAML1 | chr5 | 179198178 | C | T | Nonsynonymous | 3055 | 2/0/0 |
MAML1 | chr5 | 179192654 | G | C | Nonsynonymous | 4084 | 2/0/0 |
MFNG | chr22 | 37875518 | G | A | Nonsynonymous | 3063 | 2/0/0 |
MFNG | chr22 | 37875510 | T | G | Nonsynonymous | 4113 | 2/0/0 |
PSEN2 | chr1 | 227077760 | A | G | Nonsynonymous | 3002 | 2/0/0 |
PSEN2 | chr1 | 227075798 | C | A | Nonsynonymous | 5092 | 2/0/0 |
