KRAS 基因新生突變（c.101C>G）致 Cardio-facio-cutaneous 綜合征一例_Journal of Epilepsy

Authors：

喬曉穎 ^1,2 ,  廖建湘 ¹

1. ;
2. ;

Corresponding?author：

廖建湘, Email: liaojianxiang@vip.sina.com

Keywords：

DOI：

10.7507/2096-0247.20190065

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Citation： 喬曉穎, 廖建湘. KRAS 基因新生突變（c.101C>G）致 Cardio-facio-cutaneous 綜合征一例. Journal of Epilepsy, 2019, 5(5): 406-408. doi: 10.7507/2096-0247.20190065 Copy

1.	Tajan M, Paccoud R, Branka S, et al. The RASopathy family: consequences of germline activation of the RAS/MAPK pathway. Endocr Rev, 2018, 39(5): 676-700.
2.	郁婷婷, 張歡歡, 李牛, 等. Cardio-facio-cutaneous 綜合征 2 例報告并文獻復習. 臨床兒科雜志, 2017, 35(4): 286-289.
3.	肖海, 張照婧, 呂雪, 等. 二代測序技術在 Cardio-facio-cutaneous 綜合征診斷中的應用研究. 重慶醫學, 2018, 47(8): 1074-1076.
4.	陳佩瑜, 耿嵐嵐. 心-面-皮膚綜合征 1 例. 實用醫學雜志, 2017, 33(21): 3680.
5.	Reynolds JF, Neri G, Herrmann JP, et al. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement —the CFCS syndrome. Am J Med Genet, 1986, 25(3): 413-427.
6.	Rauen K A. The RASopathies. Annu Rev Genomics Hum Genet, 2013, 14: 355-369.
7.	Myers A, Bernstein JA, Brennan ML, et al. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. Am J Med Genet A, 2014, 164A(11): 2814-2821.
8.	劉曉亮, 傅立軍. Noonan 綜合征的診治進展. 臨床兒科雜志, 2016, 34(01): 64-67.
9.	Pierpont ME, Magoulas PL, Adi S, et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics, 2014, 134(4): e1149-e1162.
10.	Kavamura MI, Peres CA, Alchorne MM, et al. CFCS index for the diagnosis of cardiofaciocutaneous syndrome. Am J Med Genet, 2002, 112(1): 12-16.
11.	Allanson JE. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: a comparison of three disorders of the Ras/MAPK signaling pathway. American Journal of Medical Genetics (Part A), 2016, 170(10): 2570-2577.
12.	Zenker M, Lehmann K, Schulz AL, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet, 2007, 44(2): 131-135.
13.	Yoon G, Rosenberg J, Blaser S, et al. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol, 2007, 49(12): 894-899.
14.	Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet, 2006, 38(3): 331-336.
15.	Schubbert S, Bollag G, Lyubynska N, et al. Biochemical and functional characterization of germ line KRAS mutations. Mol Cell Biol, 2007, 27(22): 7765-7770.
16.	Gremer L, Merbitz-Zahradnik T, Dvorsky R, et al. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Hum Mutat, 2011, 32(1): 33-43.

1. Tajan M, Paccoud R, Branka S, et al. The RASopathy family: consequences of germline activation of the RAS/MAPK pathway. Endocr Rev, 2018, 39(5): 676-700.
2. 郁婷婷, 張歡歡, 李牛, 等. Cardio-facio-cutaneous 綜合征 2 例報告并文獻復習. 臨床兒科雜志, 2017, 35(4): 286-289.
3. 肖海, 張照婧, 呂雪, 等. 二代測序技術在 Cardio-facio-cutaneous 綜合征診斷中的應用研究. 重慶醫學, 2018, 47(8): 1074-1076.
4. 陳佩瑜, 耿嵐嵐. 心-面-皮膚綜合征 1 例. 實用醫學雜志, 2017, 33(21): 3680.
5. Reynolds JF, Neri G, Herrmann JP, et al. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement —the CFCS syndrome. Am J Med Genet, 1986, 25(3): 413-427.
6. Rauen K A. The RASopathies. Annu Rev Genomics Hum Genet, 2013, 14: 355-369.
7. Myers A, Bernstein JA, Brennan ML, et al. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. Am J Med Genet A, 2014, 164A(11): 2814-2821.
8. 劉曉亮, 傅立軍. Noonan 綜合征的診治進展. 臨床兒科雜志, 2016, 34(01): 64-67.
9. Pierpont ME, Magoulas PL, Adi S, et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics, 2014, 134(4): e1149-e1162.
10. Kavamura MI, Peres CA, Alchorne MM, et al. CFCS index for the diagnosis of cardiofaciocutaneous syndrome. Am J Med Genet, 2002, 112(1): 12-16.
11. Allanson JE. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: a comparison of three disorders of the Ras/MAPK signaling pathway. American Journal of Medical Genetics (Part A), 2016, 170(10): 2570-2577.
12. Zenker M, Lehmann K, Schulz AL, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet, 2007, 44(2): 131-135.
13. Yoon G, Rosenberg J, Blaser S, et al. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol, 2007, 49(12): 894-899.
14. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet, 2006, 38(3): 331-336.
15. Schubbert S, Bollag G, Lyubynska N, et al. Biochemical and functional characterization of germ line KRAS mutations. Mol Cell Biol, 2007, 27(22): 7765-7770.
16. Gremer L, Merbitz-Zahradnik T, Dvorsky R, et al. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Hum Mutat, 2011, 32(1): 33-43.

Journal of Epilepsy

KRAS 基因新生突變（c.101C>G）致 Cardio-facio-cutaneous 綜合征一例

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