Bone marrow failure syndromes with short telomeres and genetic associations
| Disease . | Gene involved . | Chromosome location . | Protein, kDa . | Function . | Other . |
|---|---|---|---|---|---|
| Dyskeratosis congenita | |||||
| X-linked | DKC1 | Xq28 | 57 | Putative pseudouridine synthase | Binding to box H/ACA snoRNA |
| Autosomal recessive | TERC | 3q21-28 | — | RNA template of telomerase reverse transcriptase | Contains box H/ACA |
| TINF2 | 14q12 | 40 | Shelterin component | ||
| Autosomal dominant | NOP10 | 15q14-q15 | 10 | Member of the H/ACA small nucleolar ribonucleoproteins gene family | rRNA processing and modification |
| TERT | 5p15.33 | 130 | Elongation of telomeres | ||
| Shwachman-Diamond syndrome | |||||
| More than 90% of patients | SBDS | 7q11 | 29 | Putative RNA processing | |
| Fanconi anemia | FANC-A to FANC-N | — | 42-380 | DNA repair; FA pathway for DNA damage response | Eight proteins form a nuclear complex |
| “Acquired” aplastic anemia | |||||
| Approximately 4% of patients | TERC | 3q21–28 | — | RNA template of telomerase reverse transcriptase | Contains box H/ACA |
| Approximately 4% of patients | TERT | 5p15.33 | 130 | Elongation of telomeres | |
| Approximately 5% of patients | SBDS | 7q11 | 29 | Putative rRNA processing | |
| Less than 1% of patients | TERF1 | 8q13 | 50 | Shelterin component | |
| Less than 1% of patients | TERF2 | 16q22.1 | 55 | Shelterin component |
| Disease . | Gene involved . | Chromosome location . | Protein, kDa . | Function . | Other . |
|---|---|---|---|---|---|
| Dyskeratosis congenita | |||||
| X-linked | DKC1 | Xq28 | 57 | Putative pseudouridine synthase | Binding to box H/ACA snoRNA |
| Autosomal recessive | TERC | 3q21-28 | — | RNA template of telomerase reverse transcriptase | Contains box H/ACA |
| TINF2 | 14q12 | 40 | Shelterin component | ||
| Autosomal dominant | NOP10 | 15q14-q15 | 10 | Member of the H/ACA small nucleolar ribonucleoproteins gene family | rRNA processing and modification |
| TERT | 5p15.33 | 130 | Elongation of telomeres | ||
| Shwachman-Diamond syndrome | |||||
| More than 90% of patients | SBDS | 7q11 | 29 | Putative RNA processing | |
| Fanconi anemia | FANC-A to FANC-N | — | 42-380 | DNA repair; FA pathway for DNA damage response | Eight proteins form a nuclear complex |
| “Acquired” aplastic anemia | |||||
| Approximately 4% of patients | TERC | 3q21–28 | — | RNA template of telomerase reverse transcriptase | Contains box H/ACA |
| Approximately 4% of patients | TERT | 5p15.33 | 130 | Elongation of telomeres | |
| Approximately 5% of patients | SBDS | 7q11 | 29 | Putative rRNA processing | |
| Less than 1% of patients | TERF1 | 8q13 | 50 | Shelterin component | |
| Less than 1% of patients | TERF2 | 16q22.1 | 55 | Shelterin component |
— indicates not applicable.