Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjogren's syndrome
Open Access
- 1 December 1998
- journal article
- case report
- Published by BMJ in Molecular Pathology
- Vol. 51 (6) , 339-341
- https://doi.org/10.1136/mp.51.6.339
Abstract
Cowden disease is an autosomal dominant disorder associated with an increased risk of breast, thyroid, and skin cancer in which germline mutations in a candidate tumour suppressor gene (PTEN) have been identified previously. Sjögren's syndrome is a chronic inflammatory and autoimmune disorder of exocrine glands for which the genetic basis is unknown. This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome. This observation raises the possibility of a link between mutations in the PTEN gene and Sjögren's syndrome.Keywords
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