Boccone, Loredana and Dessì, Valentina and Serra, Gigliola and Zibordi, Federica and Loudianos, Georgios (2008) Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. American Journal of Medical Genetics Part A, Vol. 146A (2), p. 257-260. eISSN 1552-4833. Article.
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This study, combined with the previously reported c.634+1G >T mutation [Agrawal et al., 2005] reveal that exon 6 skipping of PTEN gene produces two different phenotypes of CS and BRRS associated with posterior subcapsular congenital cataract. These data suggest the contribution of other factors that could act downstream of the mutations determining phenotypic variability [Weng et al., 2001]. In conclusion, this study expands our knowledge on the phenotypic variability of BRRS syndrome and suggests a new mechanism for posterior subcapsular congenital cataract due to altered function of the PTEN protein. Further investigations involving a larger number of patients will be required to confirm these data.
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