Avtor/Urednik		Streicher, T; Glavač, D; Brauch, H
Naslov		Ophthalmologische und genetische Aspekte der von Hippel-Lindau Angiomatosis
Tip		članek
Vir		Choroby hlavy a krku
Vol. in št.		, št. 2
Leto izdaje		1996
Obseg		str. 9-14
Jezik		ger
Abstrakt		Von Hippel-Lindau (VHL) disease is an autosomal dominant inheritable familial cancer syndrome predisposing to retinal angiomas, cerebellar and spinal hemangioblastomas, renal cysts and carcinomas, pheochromocytomas as well as pancreatic tumors. We describe the clinical features and germline mutation analysis in a four generation family with 13 affected members. SSCP and sequencing analysis identified a guanine to adenine change from serine to asparagine in the VHL protein. The mutation caused retinal angioma in 7 individuals each, cherebellar and spinal hemangioblastomas in 6 individuals, renal cystsadenoma or renal cell carcinoma in 6 individuals, renal cystsadenoma or renal cell carcinoma in 6 individuals and pancreatis adenoma in one individual. SSCP analysis indentified in addition three nonsymptomatic gene carriers. Molecular diagnosis in this family will have in impact in the clinical management of VHL patients and non - symptomatic gene carriers and will help to prevent severe occular complications and blindness as well as neurological impairment and metastatic disease.
Deskriptorji		HIPPEL-LINDAU DISEASE POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL BASE SEQUENCE MUTATION GUANINE ADENINE SERINE ASPARAGINE PEDIGREE