Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis

Respiratory Research

Table 3 Cases with pathogenic gene variants

Gene	Variant	Telomere length	Hematological abnormalities	Radiologic pattern	Clinical diagnosis
TERT	c.2320C>T, p.Arg(774*)	Short	Thrombocytopenia	UIP, PPFE	IPF
TERT	c.2051A>G, p.(Asp684Gly)	Short	None	UIP	CTD-ILD
TERT	c.2051A>G, p.(Asp684Gly)	Short	None	UIP, PPFE	IPF
TERT	c.2051A>G, p.(Asp684Gly)	LL	Anemia, MDS	UIP	IPF
TERT	c.2051A>G, p.(Asp684Gly)	LL	None	PPFE	PPFE
TERT	c.2051T>C, p.(Asp684Gly)	Short	Anemia, macrocytosis	UIP	IPF
TERC	r.287C>G	Short	Anemia	UIP	IPF
TERC	r.287C>G	Short	None	UIP	IPF
RTEL1	c.3028C>T, p.(Arg1010*) TNFRSF13B, c.310T>C	Short	Thrombocytopenia	UIP	IPF

All the gene variants were heterozygous. LL lower limit of normal, CTD-ILD connective tissue disease associated interstitial lung disease, IPF idiopathic pulmonary fibrosis, MDS myelodysplastic syndrome, PPFE pleuroparenchymal fibroelastosis, RTEL1 regulator of telomere elongation helicase 1, TERC telomerase RNA component, TERT = telomerase reverse transcriptase, UIP usual interstitial pneumonia

ISSN: 1465-993X