TY - JOUR
T1 - A novel Von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma
AU - Rich, Thereasa A.
AU - Jonasch, Eric
AU - Matin, Surena
AU - Waguespack, Steven G.
AU - Gombos, Dan S.
AU - Santarpia, Libero
AU - Stolle, Catherine
AU - Jimenez, Camilo
PY - 2008/7
Y1 - 2008/7
N2 - Von Hippel Lindau disease is a common cause of apparently sporadic pheochromocytomas. Herein, we describe a 20-year-old man with an apparently sporadic pheochromocytoma associated with a novel, relatively conservative germline Gly104Val VHL gene mutation, which is localized within exon 1 of the VHL gene corresponding to the β-domain of the VHL protein (pVHL). The nearly asymptomatic patient's father also carries the same mutation. Similar to other mutations localized in the same codon, the Gly104Val VHL mutation seems to have an attenuated disease phenotype.
AB - Von Hippel Lindau disease is a common cause of apparently sporadic pheochromocytomas. Herein, we describe a 20-year-old man with an apparently sporadic pheochromocytoma associated with a novel, relatively conservative germline Gly104Val VHL gene mutation, which is localized within exon 1 of the VHL gene corresponding to the β-domain of the VHL protein (pVHL). The nearly asymptomatic patient's father also carries the same mutation. Similar to other mutations localized in the same codon, the Gly104Val VHL mutation seems to have an attenuated disease phenotype.
KW - Novel mutation
KW - Pheochromocytoma
KW - Von Hippel-Lindau disease
UR - http://www.scopus.com/inward/record.url?scp=46349091611&partnerID=8YFLogxK
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U2 - 10.1080/07357900701802527
DO - 10.1080/07357900701802527
M3 - Article
C2 - 18584357
AN - SCOPUS:46349091611
SN - 0735-7907
VL - 26
SP - 642
EP - 646
JO - Cancer Investigation
JF - Cancer Investigation
IS - 6
ER -