Identification of PTEN mutations in five families with Bannayan‐Zonana syndrome

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Abstract
Germline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan‐Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features. there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C‐T (nonsense mutation) and 209+5G‐A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte‐Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder.