Case Reports
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
Nirmala D. Sirisena,
University of Colombo, LK
About Nirmala
Human Genetics Unit, Faculty of Medicine
L. Suresh C. De Silva,
Asiri Surgical Hospital, Colombo, LK
About L.
Asiri Centre for Genomic and Regenerative Medicine,
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
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 PKDCT, Sirisena ND, De Silva LSC, Dissanayake VHW. 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. 2015;33(1):30–2. DOI: http://doi.org/10.4038/sljs.v33i1.8128
Published on
02 Jun 2015.
Peer Reviewed
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