The Bannayan–Riley–Ruvalcaba Syndrome (BRRS, OMIM 153480) is a rare disorder, inherited in an autosomal dominant pattern, characterized by macrocephaly, hemangiomatosis, lipomatosis, speckled penis and a risk of cancer [Gorlin et al., 1992]. This syndrome overlaps Cowden Syndrome (CS, OMIM 158350)[Lloyd and Dennis, 1963]. Germline mutations in the PTEN (Phosphatase and Tensin homolog deleted on chromosome TEN), a tumor suppressor gene on 10q23. 3 are found in approximately 85% of individuals with classic Cowden Syndrome and in 65% of individuals with BRRS and in other disorders which are collectively referred to as the ‘‘PTEN hamartoma tumor syndrome’’(PTHS)[Marsh et al., 1999; Eng, 2000; Merks et al., 2003]. More than a hundred PTEN mutations have been reported in CS and BRRS patients [Eng, 2003]. Only a few of these mutations affect splice donor or acceptor sites and in most of them no data exist on the effect of mutations on mRNA [Agrawal et al., 2005]. Here we report on splice mutation of the PTEN gene in a patient with BRRS and posterior subcapsular congenital cataract.

The patient is a 6-year-old Sardinian boy born at term to a 34-year-old father and a 29-year-old mother, both healthy and nonconsanguineous. The pregnancy was complicated by hyperemesis in the first trimester and preeclampsia in the seventh month. He was delivered by cesarean because of acute fetal distress. Birth weight was 4,270 g (97th centile), length 55 cm (97th centile) and head circumference 39.5 cm (>+ 2 SD). The Apgar score was 9–10. The