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Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families

Publication Type : Journal Article

Thematic Areas : Medical Sciences, Nanosciences and Molecular Medicine

Publisher : Familial Cancer

Source : Familial Cancer, Volume 14, Number 4, p.585–594 (2015)

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Campus : Kochi

School : School of Medicine, Center for Nanosciences

Center : Amrita Center for Nanosciences and Molecular Medicine Move, Nanosciences

Department : Nanosciences and Molecular Medicine

Year : 2015

Abstract : The general prevalence of the familial multi-organ tumor disorder, von Hippel–Lindau syndrome (VHL), was estimated to be 1 in 25–40,000 in western studies two decades back. Few studies were done in Indian sub-continent, amidst a surge in clinical reports on VHL specific manifestations. The syndrome is correlated with mutations of the gene VHL (located in Chr 3p25.3). We aimed to conduct a prospective case series describing phenotypic and genotypic characteristics in Indian population. The VHL-specific clinical and radiological features were collected from patients and family members. Genotypic changes such as deletion/duplication or point mutation in the VHL locus were identified using sequencing and MLPA. Thirty-one subjects, from fifteen families with diagnosed VHL, were included in the study. Multicystic pancreas was found in 71nbsp;{%} (22/31), CNS hemangioblastoma in 68nbsp;{%} (21/31), renal cell carcinoma and retinal angiomas in 23nbsp;{%} (7/31) each, pheochromocytoma in 9.7nbsp;{%} (3/31) of the population and endolymphatic sac tumor in one subject. Four families (9 subjects) had full length deletion of VHL, three families (4 subjects) had a deletion of exon 3, eight families (18 subjects) had different exonic, splice-site and intronic point mutations and one subject had a de novo in-frame indel in exon 1. Multicystic pancreas and CNS hemangioblastomas were the most common manifestations in our population. The phenotypic expression patterns in terms of tumorigenesis, tissue tropism and penetrance in comparison to the genotypic features were found to be different from previous correlative studies.

Cite this Research Publication : N. Vikkath, Valiyaveedan, S., Nampoothiri, S., Radhakrishnan, N., Pillai, G. S., Nair, V., Ginil Kumar Pooleri, Mathew, G., Krishnakumar N. Menon, Ariyannur, P. S., and Pillai, A. B., “Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families”, Familial Cancer, vol. 14, pp. 585–594, 2015.

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