A novel variant of SFTPA2 in a Han Chinese family with interstitial lung disease and lung cancer

Figures & data

Figure 1. Clinical features of the family. (a) Pedigree figure. Family members are identified by generations and numbers. Squares indicate male family members; circles, female members; closed symbols, the affected members; open symbols, unaffected members; arrow, proband, N, normal, M, mutation. HRTC testing of II-3 (b) and II-1(c).

Table 1. The clinical data of the family with ILD.

Member		II-3	II-1
Year/gender		50/M	53/M
Entering complaint		Repeated cough for eight years and shortness of breath for one year	Cough for 5 years
Dry mouth/ Dry eyes/ Joint pain/ Hair loss/ Fearless light/ Rash		No	No
Smoking history		No	20 years
Laboratory tests	Rheumatoid factor	+	+
	Anti-cyclic citrullinated peptide antibody	–	–
	Vasculitiss antibodies	Normal	–
	Autoimmune hepatitis Antibody	Normal	–
	Anti-nuclear extract antibody	Normal	–
	ANA	(1:320) + nuclear particle type (>1:320)	–
	ANCA	–	–
	ENA antibody	Ro-52+++	Ro-52+++
	Anti-SS-A antibody positive	+	–
Pulmonary function	FEV1 pred%	77	75
	DLCO pred %	29	44
	FVC pred %	83	72

Notes: M, male; F, female; ANA, antinuclear antibodies; ANCA, antineutrophil cytoplasmic antibody; ENA, extractable nucler antigen; SS-A, anti-Sjögren’s-syndrome-related antigen A. DLCO, diffusing capacity or transfer factor of the lung for carbon monoxide (CO); FVC, forced vital capacity.

Figure 2. Genetic analysis of the family (a) Sequencing results of the SFTPA2 mutation. Sequence chromatogram indicates a G to A transition of nucleotide 404. (b) Conservation analysis of the alanine residue at position 135 (p.G135).