Pulmonary fibrosis in non‐mutation carriers of families with short telomere syndrome gene mutations

For genetic diseases, predictive test results are commonly straightforward: presence of the mutation involves increased risk for disease and absence of the mutation involves no inherit risk for disease. Additional genetic, clinical or environmental risk factors for pulmonary fibrosis were present in each non mutation carrying patient. Our study shows that non mutation carrying first degree relatives in families with STS are at increased risk for pulmonary fibrosis.