Von Hippel-Lindau "Black Forest" mutation inherited in a large Chinese family.

Autor:	Liu P; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China., Zhu F; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China.; Department of Biochemistry and Molecular Biology, School of Life Sciences, Central South University, Changsha 410013, China., Li M; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China., Dube DA; Academic Training Unit of Urological Surgery, College of Health Science, University of Zimbabwe, Harare, Zimbabwe., Liu Q; Department of Biochemistry and Molecular Biology, School of Life Sciences, Central South University, Changsha 410013, China., Wang C; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China., Xiao Q; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China., Zhang L; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China., Gao S; Department of Biochemistry and Molecular Biology, School of Life Sciences, Central South University, Changsha 410013, China., Li Z; Department of Biochemistry and Molecular Biology, School of Life Sciences, Central South University, Changsha 410013, China., Zhang B; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China., Liu J; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China., Liu L; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China., Chen X; Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China.
Jazyk:	angličtina
Zdroj:	Gland surgery [Gland Surg] 2019 Aug; Vol. 8 (4), pp. 343-353.
DOI:	10.21037/gs.2019.08.03
Abstrakt:	Background: The Von Hippel-Lindau ( VHL ) p . Tyr98His ( Y98H ) mutation is designated as the "Black Forest" founder mutation and has been previously reported in Western countries. This study reports the first recorded Chinese VHL family with the "Black Forest" mutation in Asia. Methods: Paired whole-exome sequencing (WES), Sanger sequencing and immunohistochemistry (IHC) were performed on samples from a large Chinese family to confirm the causative mutation and mutation carriers in the family. Clinical manifestations of the family were summarized and compared with those reported from other patients with the VHL Y98H mutation. Results: The Chinese pheochromocytoma (PCC) family was identified as a VHL type 2 family with a Y98H mutation. There were 4 VHL patients and 11 currently healthy individuals with the mutation. Copy number analysis and SDHB IHC were performed to exclude interference from other pathogenic genes of PCC or paraganglioma (PGL). Conclusions: We report the first recorded instance of a Chinese VHL type 2 family with the "Black Forest" mutation by using WES and Sanger sequencing, which widens the currently recorded presence of the "Black Forest" mutation to China and potentially elsewhere in Asia and indicates that the "Black Forest" mutation does not uniquely evolve in occidental countries. A personalized surveillance approach, which may be more appropriate for affected families, has been recommended to improve quality of life. Competing Interests: Conflicts of Interest: The authors have no conflicts of interest to declare.
Databáze:	MEDLINE
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