Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation

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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DOI: 10.1002/ajmg.a.32086

Abstract

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.

Item Type:	Article
ID Code:	2457
Status:	Published
Refereed:	Yes
Uncontrolled Keywords:	BRRS, PTEN gene
Subjects:	Area 06 - Scienze mediche > MED/39 Neuropsichiatria infantile
Divisions:	001 Università di Sassari > 03 Istituti > Neuropsichiatria infantile
Publisher:	Wiley-Liss
eISSN:	1552-4833
Deposited On:	18 Aug 2009 10:07

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