GENETIC ANALYSIS IN PATIENTS WITH CLINICAL SUSPICION OF VON HIPPEL LINDAU (VHL) TYPE 1 DISEASE

MATHÓ, CECILIA; TRARBACH, ERICKA B; BARONTINI, MARTA; SANSÓ, GABRIELA

Montevideo

Congreso; XXIII Reunión Anual de la Sociedad Latinoamericana de Endocrinología Pediátrica; 2012

Background: VHL disease is an autosomal dominant disorder, which increases susceptibility to a variety of benign and malignant tumours. VHL type 1 is associated with large deletions or truncating/null mutations of VHL gene. Aim: to implement a complete VHL genetic analysis for patients with clinical suspicion of VHL type1. Methods: We evaluated VHL in 8 subjects (7 unrelated) with clinical suspicion of VHL type1 with or without family history. DNA sequencing and UPQFM-PCR (Universal Primer Quantitative Fluorescent Multiplex PCR) were performed for the detection of point mutations and large VHL deletions, respectively. Individuals with/without VHL deletions were included as controls, and MLPA (Multiplex Ligation-dependent Probe Amplification) was used to confirm the deletion identified. Results: We detected a deletion removing exons 2 and 3 of VHL in one sporadic male patient and a nonsense p.W88* in another. Conclusions: UPQFM-PCR technique proved to be convenient, useful, reliable and consistent with MLPA. We were able to confirm VHL type1 disease in two symptomatic patients, with no family history. The use of UPQFM-PCR for the detection of large VHLdeletions, together with the preexistent methods in our laboratory, provided a complete genetic study for patients with clinical suspicion of VHL type1 disease.