Table 1 Age of onset and clinical... | American Society of Hematology

Table 1

Age of onset and clinical presentation of telomerase mutation carriers

Sex	Age, y*	First presentation	Second feature(s)	Family history†	Mutation
M	9	AA	Pulmonary fibrosis, liver fibrosis	Pulmonary fibrosis, liver cirrhosis	hTERT Lys902Arg
M	10	AA	Pulmonary disease	Pulmonary fibrosis, liver disease	hTERT Val170Met
F	13	AA	Pulmonary fibrosis	AA	hTERT Val1025Phe
M	14	AA		Pulmonary fibrosis, liver cirrhosis	hTR 143 G→A
M	18	AA		Pulmonary fibrosis	hTERT Ala716Thr
F	21	AA		Pulmonary fibrosis, MDS	hTR 204 C→G
M	44	Pulmonary fibrosis‡	Hypoplastic marrow	Pulmonary fibrosis	hTERT Val170Met
F	44	Pulmonary fibrosis§	Pancytopenia, macrocytosis	Pulmonary fibrosis, pancytopenia	hTERT Val747AlafsX20
M	57	Pulmonary fibrosis‡	Hypoplastic marrow, liver disease	Pulmonary fibrosis	hTERT Leu841Phe
F	61	Pulmonary fibrosis‡		AA, pulmonary fibrosis	hTR 98 G→A

Sex	Age, y*	First presentation	Second feature(s)	Family history†	Mutation
M	9	AA	Pulmonary fibrosis, liver fibrosis	Pulmonary fibrosis, liver cirrhosis	hTERT Lys902Arg
M	10	AA	Pulmonary disease	Pulmonary fibrosis, liver disease	hTERT Val170Met
F	13	AA	Pulmonary fibrosis	AA	hTERT Val1025Phe
M	14	AA		Pulmonary fibrosis, liver cirrhosis	hTR 143 G→A
M	18	AA		Pulmonary fibrosis	hTERT Ala716Thr
F	21	AA		Pulmonary fibrosis, MDS	hTR 204 C→G
M	44	Pulmonary fibrosis‡	Hypoplastic marrow	Pulmonary fibrosis	hTERT Val170Met
F	44	Pulmonary fibrosis§	Pancytopenia, macrocytosis	Pulmonary fibrosis, pancytopenia	hTERT Val747AlafsX20
M	57	Pulmonary fibrosis‡	Hypoplastic marrow, liver disease	Pulmonary fibrosis	hTERT Leu841Phe
F	61	Pulmonary fibrosis‡		AA, pulmonary fibrosis	hTR 98 G→A

AA indicates Aplastic anemia; and MDS indicates myelodysplastic syndrome.

Age at first presentation.

Family history shown in Figure 2A.

Usual interstitial pneumonia/idiopathic pulmonary fibrosis.

Idiopathic interstitial lung disease, nonclassifiable.