DC genetic subtypes
| DC Subtype . | Approximate % of patients with DC . | Chromosome location . | Gene product . | Exons . |
|---|---|---|---|---|
| X-linked recessive | 25 | Xq28 | DKC1 (dyskerin) 15 | |
| Autosomal dominant | 12 | 14q12 | TIN2 | 6 |
| 5 | 3q26.2 | TERC* | 1 | |
| 3 | 5p15.33 | TERT* | 16 | |
| <1 | 4q32.2 | NAF1* | 13 | |
| <1 | 12q24.31 | ZCCHC8* | 17 | |
| <1 | 5q35.1 | NPM1 | 13 | |
| <1 | 1q32.1 | MDM4 | 13 | |
| Autosomal recessive | 2 | 16q21 | USB1 | 9 |
| 2 | 20q13.3 | RTEL1* | 35 | |
| 1 | 16p13.12 | PARN* | 27 | |
| <1 | 15q14 | NOP10 | 2 | |
| <1 | 5p15.33 | TERT* | 16 | |
| <1 | 5q35.3 | NHP2 | 4 | |
| <1 | 17p13.1 | WRAP5313 | ||
| <1 | 17p13.1 | CTC1 | 23 | |
| <1 | 16q22.1 | ACD/TPP1 | 13 | |
| Uncharacterized | >30 | ? | ? | ? |
| DC Subtype . | Approximate % of patients with DC . | Chromosome location . | Gene product . | Exons . |
|---|---|---|---|---|
| X-linked recessive | 25 | Xq28 | DKC1 (dyskerin) 15 | |
| Autosomal dominant | 12 | 14q12 | TIN2 | 6 |
| 5 | 3q26.2 | TERC* | 1 | |
| 3 | 5p15.33 | TERT* | 16 | |
| <1 | 4q32.2 | NAF1* | 13 | |
| <1 | 12q24.31 | ZCCHC8* | 17 | |
| <1 | 5q35.1 | NPM1 | 13 | |
| <1 | 1q32.1 | MDM4 | 13 | |
| Autosomal recessive | 2 | 16q21 | USB1 | 9 |
| 2 | 20q13.3 | RTEL1* | 35 | |
| 1 | 16p13.12 | PARN* | 27 | |
| <1 | 15q14 | NOP10 | 2 | |
| <1 | 5p15.33 | TERT* | 16 | |
| <1 | 5q35.3 | NHP2 | 4 | |
| <1 | 17p13.1 | WRAP5313 | ||
| <1 | 17p13.1 | CTC1 | 23 | |
| <1 | 16q22.1 | ACD/TPP1 | 13 | |
| Uncharacterized | >30 | ? | ? | ? |
The major subtypes of DC are associated with variants in DKC1, TINF2, TERC, and TERT.
Heterozygous variants in these genes have been associated with pulmonary disease in late adulthood. Most of the DC genes encode products that have a principal role in telomere maintenance; however, this is not the case for USB1 and NPM1. Variants in some other genes (GRHL2, DNAJC3, RECQL4, and LIG4) can produce features that overlap with DC.