Mutations in dyskeratosis congenita and other telomere biology disorders

Mutated gene	Clinical features	Inheritance
ACD	Classic DC; Hoyeraal-Hreidarsson syndrome	AD or AR
CTC1	Classic DC; Coats plus syndrome	AR
DKC1	Classic DC; Hoyeraal-Hreidarsson syndrome	X-linked
NAF1	Classic DC	AD
NHP2	Classic DC	AR
NOP10	Classic DC	AR
PARN	Classic DC, pulmonary fibrosis, Hoyeraal-Hreidarsson syndrome	AR
RTEL1	Classic DC, pulmonary fibrosis, Hoyeraal-Hreidarsson syndrome	AD or AR
STN1	Coats plus syndrome	AR
TERC	Classic DC, pulmonary fibrosis	AD or AR
TERT	Classic DC, familial melanoma, pulmonary fibrosis	AD or AR
TINF2	Classic DC, Hoyeraal-Hreidarsson syndrome, Revesz syndrome	AD
WRAP53	Classic DC	AR

Refer to UpToDate topics on DC, pulmonary fibrosis, and regulation of cell division for further information.

DC: dyskeratosis congenita; AR: autosomal recessive; AD: autosomal dominant.

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