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SHH Variant in a Father and a Son with Tracheobronchial Malformation
Suzan J G Knottnerus1, Sabine M P J Prevaes2, Maartje J Geerlings3
1Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Introduction:
Congenital tracheobronchial stenosis (CTBS) is a rare disease of in most cases unknown etiology. In a previous cohort of patients with CTBS, a mosaic variant in the SHH gene was identified.
Case Presentation:
We hereby report a son (case 1) and his father (case 2) with tracheobronchial malformation. In the severely affected proband, a rare SHH variant (c.376G>A p.[Glu126Lys]) was found, which appeared to be inherited from his father who had a similar clinical phenotype. This variant was found to be de novo in the father.
Conclusion:
We identified a variant in SHH as a possible cause of familial tracheobronchial malformation. This case underscores a possible association between the SHH gene and trachea development. Notably, this variant can present with severe symptoms in infancy, but signs and symptoms may be more attenuated in adulthood.
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