Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.
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.
Raizis
A M
AM
Department of Clinical Biochemistry, Christchurch Hospital, New Zealand.
Ferguson
M M
MM
Robinson
B A
BA
Atkinson
C H
CH
George
P M
PM
D000328:Adult; D005260:Female; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006801:Humans; D051059:PTEN Phosphohydrolase; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D012859:Sjogren's Syndrome / Q000235:genetics*; D025521:Tumor Suppressor Proteins
D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human