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

Content Provider	Springer Nature Link
Author	Vikkath, Narendranath Valiyaveedan, Sindhu Nampoothiri, Sheela Radhakrishnan, Natasha Pillai, Gopal S. Nair, Vasantha Pooleri, Ginil Kumar Mathew, Georgie Men, Krishnakumar N. Ariyannur, Prasanth S. Pillai, Ashok B.
Copyright 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 71 % (22/31), CNS hemangioblastoma in 68 % (21/31), renal cell carcinoma and retinal angiomas in 23 % (7/31) each, pheochromocytoma in 9.7 % (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.
Starting Page	585
Ending Page	594
Page Count	10
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	14
Issue Number	4
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2015-05-08
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Genotype–Phenotype correlation von Hippel–Lindau syndrome India VHL Mutation Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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