Table 2.
Novel PARN and RTEL1 Variants found in Familial Pulmonary Fibrosis Probands by Whole-Exome Sequencing.
| Gene | DNA change† | Impact† | dbSNP | 1,000 Genome | ESP | Proband Telomere Length (Percentile) |
|---|---|---|---|---|---|---|
| PARN | IVS4 -2a>g‡ | Splice | Novel | Novel | Novel | < 1st |
| PARN | IVS4 -2a>g‡ | Splice | Novel | Novel | Novel | < 1st |
| PARN | c.529 C>T | Gln177* | Novel | Novel | Novel | < 1st |
| PARN | c.563_564insT | Ile188Ilefs*7 | Novel | Novel | Novel | ~ 7th |
| PARN | c.751delA | Arg251Glufs*14 | Novel | Novel | Novel | ~ 30th |
| PARN | IVS16 +1g>a | Splice | Novel | Novel | Novel | ~ 3rd |
| PARN | c.1262 A>G | Lys421Arg | Novel | Novel | Novel | < 1st |
|
| ||||||
| RTEL1 | c.602delG | Gly201Glufs*15 | Novel | Novel | Novel | ~ 2nd |
| RTEL1 | c.1451 C>T | Pro484Leu | Novel | Novel | Novel | < 1st |
| RTEL1 | c.1940 C>T | Pro647Leu | Novel | Novel | Novel | < 1st |
| RTEL1 | c.2005 C>T | Gln693* | Novel | Novel | Novel | < 1st |
| RTEL1 | c.3371 A>C | His1124Pro | Novel | Novel | Novel | < 1st |
†
The position of the DNA and protein variants is described using PARN NM_2582.3 (variant 1) and RTEL1 NM_1283009.1 (variant 3).
‡
The same mutation was found in two different probands, who are distantly related to each other as shown in Figure 1.
None of the listed variants were found in the dbSNP (version 138), the 1,000 Genome Project (pHase2), or the NHLBI Exome Variant Server Database available from the Exome Sequencing Project (ESP6500SI-V2).