Table 1.
Mutant genes in Mendelian telomere syndromes by function, along with their modes of inheritance
| Mutant gene | Telomere shortening | Telomere lengthening | Mode of inheritance |
|---|---|---|---|
| Telomerase core | |||
| TERT | X | X | AD, AR |
| TR | X | AD | |
| TR processing and biogenesis | |||
| DKC1 | X | X linked, de novo | |
| ZCCHC8 | X | AD | |
| NAF1 | X | AD | |
| PARN | X | AD, AR | |
| NOP10 | X | AR | |
| NHP2 | X | AR | |
| Telomere-binding proteins | |||
| TPP1 | X | X | AR |
| TINF2 | X | X | AD, de novo |
| POT1 a | X | AD | |
| TERF2IP/RAP1 | X | ||
| Other | |||
| RTEL1 | X | AD, AR | |
| TCAB1 | X | AR | |
| Coats plus syndrome b | |||
| CTC1 | X/− | AR | |
| STN1 | ? | AR | |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive.
a
POT1 homozygous mutations have been limited to one patient with Coats plus syndrome.
b
Published results vary as to whether patients with Coats plus syndrome have telomere length abnormalities.