Pulmonary fibrosis with a rare SFTPC variant (c.304G>A, p.Val102Met): A case report

Genetically associated pulmonary fibrosis often occurs at a younger age, progresses rapidly, and has poor prognosis; however, its diagnosis and management remain challenging. Causative gene mutations are classified into two main categories: Telomere- and surfactant-related. We report the case of a 41-year-old Japanese woman with a heterozygous missense variant in surfactant protein C, c.304G>A (p.Val102Met). To the best of our knowledge, this is the third reported patient with interstitial lung disease potentially linked to this variant and the second with adult onset; furthermore, this is the first reported case in a Japanese individual.