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A Sri Lankan family with cerebellar hemangioblastoma due to a heterozygous nonsense mutation in the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene

Authors:

P.K.D. Channa T. Somadasa,

University of Colombo, LK
About P.K.D.
Human Genetics Unit, Faculty of Medicine
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Nirmala D. Sirisena,

University of Colombo, LK
About Nirmala
Human Genetics Unit, Faculty of Medicine
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L. Suresh C. De Silva,

Asiri Surgical Hospital, Colombo, LK
About L.
Asiri Centre for Genomic and Regenerative Medicine,
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Vajira H.W. Dissanayake

University of Colombo
About Vajira

Human Genetics Unit, Faculty of Medicine

Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo

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Abstract

Mutations in the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene cause a variety of phenotypes including von Hippel-Lindau (VHL) disease. This report describes a Sri Lankan family with three siblings with cerebellar haemangioblastoma due to a nonsense mutation in the VHL gene. A heterozygous nucleotide substitution in exon 3 was identified in all three siblings resulting in a stop codon at amino acid position 175 leading to a truncated non-functional VHL protein[NM_000551.3(VHL):c.525C>G;p.Tyr175Ter;rs5030835C>G]. Patients with rare tumours characteristic of VHL should undergo clinical and genetic evaluation for VHL.

 

The Sri Lanka Journal of Surgery 2015; 33(1): 30-32

How to Cite: Somadasa, P.K.D.C.T. et al., (2015). A Sri Lankan family with cerebellar hemangioblastoma due to a heterozygous nonsense mutation in the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene. Sri Lanka Journal of Surgery. 33(1), pp.30–32. DOI: http://doi.org/10.4038/sljs.v33i1.8128
Published on 02 Jun 2015.
Peer Reviewed

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