Table 1.

Table summarizing short telomere syndromes, associated genes and their respective modes of inheritance.

Disease	Inheritance	Associated genes	Reference
Bone marrow failure associated with short telomere syndromes
a Dyskeratosis congenita	X- linked recessive (more common)	Telomerase biogenesis:
		DKC1	Heiss NS et al. Nat Gent 1998.39
	Autosomal dominant	Telomerase core components:
		TERT	Vulliamy T et al. Nature 2001.63
		TERC	Armanios M et al. PNAS 2005.40
			Vulliamy TJ et al. Blood 2006.41
		Shelterin component:
		TIN2	Savage SA et al. Am J Hum Genet 2008.11
	Autosomal recessive	Telomerase biogenesis:
		NOP10 (NOLA3)	Walne AJ et al. Hum Mol Genet 200742
		NHP2	Vulliamy T et al. Proc Natl Acad 2008.43
		Telomerase trafficking:
		TCAB1	Zhong F et al. Genes Dev 2011.44
b Hoyeraal-Hreidarsson syndrome	X-linked recessive	Telomerase biogenesis:
		DKC1	Glousker et al. Br J Hematol 2015.64
	Autosomal dominant	Shelterin components:	Kocak H et al. Gene&Dev 2014.65
		TIN2
	Autosomal recessive	Telomerase core components:
		TERT
		Shelterin components:
		ACD (encoding TPP1),
		Telomeric DNA synthesis:
		RTEL1
Revesz syndrome	Autosomal dominant	Shelterin component:
		TIN2	Savage SA et al. Am J Human Genet 2008.11
Cerebroretinal microangiopathy with calcifications and cysts (Coats plus disease)	Autosomal recessive	Telomeric DNA synthesis:
		CTC1, STN1 (part of the CTC complex)	Anderson et al. Nat Gent 2012.66
			Simon AJ et al. JEM 2016.67
Aplastic anemia	Autosomal dominant	Telomerase core components:
		TERT	Guo Y et al. Blood 2014.56
		TERC	Martinez P et al. JCB 2017.1
	X-linked recessive Autosomal recessive	Telomerase biogenesis:	Joksic I et al. Genome Integr 2012.68
		DKC1
		NOP10
		NHP2
Fanconi anemia	Autosomal dominant	Shelterin components:
		ACD
	Autosomal recessive	FANCD2
Pulmonary short telomere syndromes
Idiopathic pulmonary fibrosis; or familial lung fibrosis or fibrotic idiopathic interstitial pneumonias.	Autosomal dominant	Telomerase core components:
		TERC	Armanios MY et al. NEJM 2007.69
		TERT	Fingerlin TE et al. Nat Gen 2013.18
		Telomerase biogenesis:
		NAF1	Stanley SE et al. Sci Transl Med 2016.4
GI short telomere syndromes
Cryptogenic cirrhosis Or Nodular regenerative hyperplasia	Autosomal dominant	Telomerase core components:	Calado RT et al. Plos One 2009.22
		TERT
		TERC
Others
Rothmund-Thomson syndrome	Autosomal recessive	c RECQL4	Ghosh et al. J Biol Chem 2012.70
ICF (Immunodeficiency, centromeric region instability and facial anomalies type 1)	Autosomal recessive	dDNMT3B	Xu GL et al. Nature 1999.24
			Yehezkel et al. Frontiers in Oncology 2013.25
Facioscapulohumeral muscular dystrophy	Autosomal dominant	DUX4	Stadler G et al. Nat Struct Mol Biol 2013.71

^a~40% patients with DKC still have un-identified mutations;

^bConsidered a severe variant of DKC;

^cPlays a role in telomere maintenance;

^dCauses abnormally short telomeres, hypomethylation of subtelomeric regions and elevated levels of abnormal telomeric transcripts known as TERRA.