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Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients

✍ Scribed by N. Resta; A. Stella; F.C. Susca; M. Di Giacomo; G. Forleo; I. Miccolis; F.P. Rossini; M. Genuardi; A. Piepoli; P. Grammatico; G. Guanti

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 284 KB
Volume: 20
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9046

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✦ Synopsis

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disorder with variable expression and incomplete penetrance characterized by mucocutaneous pigmentation, predisposition to hamartomatous intestinal polyposis, and various other neoplasms. It occurs in approximately 1 in 8,300 to 29,000 live births. In nearly 50% of patients PJS is caused by germ line mutations in the STK11/LKB1 serine/threonine kinase gene, the only kinase gene currently known to act as a tumor suppressor. We have performed a mutation search in the STK11/LKB1 gene in 8 sporadic cases and 3 PJS families using a combination of different screening techniques. We have identified four mutations, two of which I177N and the IVS2+1A->G, were previously unreported. We have also evaluated the presence of cDNA alterations by means of RT-PCR analysis and direct cDNA sequencing and have found two aberrant transcripts in a single PJS case despite the lack of any apparent genomic alteration. Finally, we report the presence of a novel STK11/LKB1 cDNA isoform observed in all the normal subjects studied as well as in the majority of the PJS patients.

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