TABLE 1 ] .

Characteristics of Patients With Short Telomere Syndromes

Age at Diagnosis, y	Follow-up	M/F	Genetic Diagnosis	Clinical Features	Lung Parenchyma Status	Dlco, % predicted	Vascular Abnormality	Evidence for Liver Disease	Hematologic Data/Bone Marrow Cellularity	Case No.
8	d.17	M	DKC1 IVS1+592 C > G	Cyanosis, clubbing	Normal	…	Pulmonary A-V fistulasa; telangiectasia: skin, liver, bladder	Splenomegaly, ascites	Normocellular	1
13	d.18	M	TERT Val170Met	Cyanosis, clubbing, ↑A-a gradient	Normal	76	Dilated pulmonary vasculature; telangiectasia: skin	↑AST, ↑ALT, splenomegaly	Aplasticb	2
17	21	F	Classic DC autosomal dominantc	Clubbing, ↑A-a gradient	Normal	63	Dilated pulmonary vasculature	↑AST, ↑ALT, splenomegaly	Aplastic	3
24	26	M	TERT Gly135Gluc	Cyanosis, clubbing	Normal	68	Dilated pulmonary vasculature with shuntd; visceral A-V malformations	↑AST, ↑ALT, splenomegaly	Hypocellular	4
25	25	M	TERT His983Tyrc	Clubbing	Normal	60	Dilated pulmonary vasculature	Splenomegaly	Hypocellular	5
34	d.40	M	Classic DC X-linked	Clubbing, ↑A-a gradient	Normal	40	Pulmonary A-V fistulas with shuntd; telangiectasia: skin	↑AST, ↑ALT, splenomegaly, variceal bleed	Hypocellular	6
35	t.40, 47	M	TERT Lys1050Asnc	Clubbing, ↑A-a gradient	Normal	31	Dilated pulmonary vasculature with shuntd; shunt resolved after liver transplantation	↑AST, ↑ALT, splenomegaly	Normal complete blood counts	7
44	d.54	F	Classic DC autosomal dominantc	Clubbing, ↑A-a gradient	Mild fibrosis	30	Dilated pulmonary vasculature with shuntd; gastric A-V ectasia; telangiectasia: skin	↑AST, ↑ALT, intractable ascites	Hypocellular	8
49	t.53, 54	M	RTEL1 Arg1010×c	Clubbing, ↑A-a gradient	Mild fibrosis	46	Dilated pulmonary vasculature with shuntd,e; shunt resolved after liver transplantation	↑AST, ↑ALT, splenomegaly, intractable ascites	Normocellular	9

A-a gradient = alveolar-arterial oxygen gradient; ALT = alanine aminotransferase; AST = aspartate aminotransferase; A-V = arterio-venous; d = age at death; DC = dyskeratosis congenita; Dlco = diffusion capacity of lung for carbon monoxide; F = female; M = male; t = age at liver transplant.

^aDiagnosed by pulmonary angiogram.

^bPresentation was 4 y after bone marrow transplantation.

^cTelomere length shown in Figure 1A.

^dPositive bubble echocardiograph.

^ePositive albumin scan.