Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Bronchiectasis with or without elevated sweat chloride type 1 is an autosomal recessive disorder caused by mutations of the SCNN1B gene. Mutations not only account for a systic fibrosis-like disease but also typical cystic fibrosis can be aggravated.
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Viel M et al. (2008) ENaCbeta and gamma genes as modifier genes in cystic fibrosis.
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Danielson GK et al. (1967) Middle lobe bronchiectasis. Report of an unusual familial occurrence.
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Davis PB et al. (1983) Familial bronchiectasis.
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None (1979) Familial middle lobe bronchiectasis.
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OMIM.ORG article Omim 211400
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