Use of Whole-Exome Sequencing for the Diagnosis of Atypical Birt–Hogg–Dubé Syndrome

a.
State Key Laboratory of Medical Molecular Biology, Department of Physiology, School of Basic Medicine, Graduate School of Peking Union Medical College, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China
b.
Department of Respiratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
c.
Department of Respiratory Medicine, Affiliated Hospital of Yanan University, Yanan 716000, China
d.
Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
e.
Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
f.
MyGenostics Inc., Baltimore, MD 21201, USA

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Corresponding author: E-mail address: hbzhang@ibms.pumc.edu.cn (Hongbing Zhang)

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参考文献(14)

[1]	Baba, M., Furihata, M., Hong, S.B. et al. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys J. Natl. Cancer Inst., 100 (2008),pp. 140-154
[2]	Bamshad, M.J., Ng, S.B., Bigham, A.W. et al. Exome sequencing as a tool for Mendelian disease gene discovery Nat. Rev. Genet., 12 (2011),pp. 745-755
[3]	Graham, R.B., Nolasco, M., Peterlin, B. et al. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults Am. J. Respir. Crit. Care Med., 172 (2005),pp. 39-44
[4]	Khoo, S.K., Giraud, S., Kahnoski, K. et al. Clinical and genetic studies of Birt-Hogg-Dube syndrome J. Med. Genet., 39 (2002),pp. 906-912
[5]	Mitchell, K., O'Sullivan, J., Missero, C. et al. Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus Am. J. Hum. Genet., 90 (2012),pp. 69-75
[6]	Nickerson, M.L., Warren, M.B., Toro, J.R. et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome Cancer Cell, 2 (2002),pp. 157-164
[7]	Painter, J.N., Tapanainen, H., Somer, M. et al. Am. J. Hum. Genet., 76 (2005),pp. 522-527
[8]	Ren, H.Z., Zhu, C.C., Yang, C. et al. Clin. Genet., 74 (2008),pp. 178-183
[9]	Sahn, S.A., Heffner, J.E. Spontaneous pneumothorax N. Engl. J. Med., 342 (2000),pp. 868-874
[10]	Schmidt, L.S., Nickerson, M.L., Warren, M.B. et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome Am. J. Hum. Genet., 76 (2005),pp. 1023-1033
[11]	Trotman-Dickenson, B. Cystic lung disease: achieving a radiologic diagnosis Eur. J. Radiol., 83 (2014),pp. 39-46
[12]	Wu, J., Matthaei, H., Maitra, A. et al. Sci. Transl. Med., 3 (2011),p. 92ra66
[13]	Yan, M., Gingras, M.C., Dunlop, E.A. et al. The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation J. Clin. Invest., 124 (2014),pp. 2640-2650
[14]	Yang, Y., Muzny, D.M., Reid, J.G. et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders N. Engl. J. Med., 369 (2013),pp. 1502-1511