c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature

Table 1 Characteristics of CFTR gene mutations in 69 Chinese cystic fibrosis patients

Reference	Location	n	Gender	Age (yr)	Mutation
Wang et al[15], 1993	Taiwan China	1	F	0.5	1898+5 G-->T, 2215insG+G2816A
Chen et al[16],1995	Mainland China	1	F	—	E2 del about 30 bp
Zielenski et al[17], 1995	Taiwan China	1	F	8	1898+5 G-->T, 1898+5 G-->T
Crawford et al[18], 1995	Chinese and Portuguese	1	F	3	1898 + 1G>T
Wagner et al[19], 1999	Chinese	1	F	23	c.319-326delGCTTCCTA, c. 2909G>A
Wu et al[20], 2000	Taiwan China	2	F	14	1898+5 G>T, 2215insG+G2816A
			M	17	1898+5 G>T, 2215insG+G2816A
Alper et al[21], 2003	Chinese and Vietnamese	2	M	1.5	G151T, 989-992insA
	Taiwan China		F	0.5	1898+5G>T, 2215insG+G2816A
Chen et al[22], 2005	Taiwan China	1	M	3	R553X, R553X
Li et al[6], 2006	Mainland China	1	F	14	699C>A, 3821-3823delT
Wang et al[23], 2012	Mainland China	1	F	14	W679X
Liu et al[24], 2012	Mainland China	2	F	13	2909G>A, 362T>G
			F	10	3196C>T, 3196C>T
Cheng et al[25], 2013	Mainland China	1	F	12	W679X, 1342-11TTT>G, 3120+2T>C
Liu et al[26], 2015	Mainland China	7	M	12	c.95T>C, c.1657C>T
			M	10	c.293A>G, c.558C>G
			M	16	c.2052 dupA, △E18-E20(c.2909-?_3367 + ?del)
			F	16	c.2909G>A, △E7-E11†(c.744-?_1584 + ?del)
			F	10	c.1679 + 2T>C, c.2658-1G>C
			F	21	c.293A>G, c.293A>G
			F	28	c.1666A>G
Shen et al[27], 2016	Mainland China	19	M	11.58	c.1699G>T, c.3909C>G
			F	10.58	c.263T>G, c.1766+5G>T, c.110C>G
			M	13.25	c.3700A>G, c.960_961insA
			F	13.67	c.263T>G, c.2909G>A
			M	7.17	c.326A>G, c.1000C>T, c.1666A>G
			F	10.67	c.595C>T
			F	7.75	c.223C>T, c.326A>G
			F	7.33	c.1000C>T
			F	10.17	c.263T>G
			F	11.08	c.1666A>G
			M	8.25	c.293A>G, c.558C>G
			F	4.17	c.326A>G, c.2374C>T
			M	3.67	c.1666A>G
			F	12.67	c.293A>G
			M	11	c.648G>A, c.2491-126T>C
			F	10.33	c.3196C>T
			M	11.17	c.414_415insCTA
			F	3.42	c.1075C>T, c.3307delA
			F	14	c.2909G>A
Chu et al[28], 2016	Mainland China	1	M	9	C.579+2insACAT, C.F481766+5G>T
Xu et al[29], 2016	Mainland China	1	M	0.67	c.595C>T, C.2290C>T
Li et al[30], 2016	Mainland China	1	M	0.42	c.214G>G/A, c.650A>A/G,c.3406G>G/A
Tian et al[31], 2016	Mainland China	8	F	15	c.2909G>A, c.2374C>T
			F	1	c.2909G>A, c.2125C>T
			M	13	c.3700A>G, c.959–960insA
			M	15	c.3635delT
			F	4	c.2909G>A, c.263T>G
			F	13	c.2909G>A, c.2907A>C
			M	20	c.2909G>A, c.1521_1523delCTT
			F	22	c.2909G>A, c.1997T>G
Leung et al[32], 2017	HongKong China	4	M	17	c.1766+5G>T, c.3068T>G
			M	0.5	c.1766+5G>T, c.3140-26A>G
			M	0.17	c.868C>T, c.3068T>G
			F	0.75	c.1657C>T, c.3068T>G
Xie et al[33], 2017	Mainland China	2	M	12	c.865A>T,c.3651_3652insAAAT
			M	15	c.865A>T,c.3651_3653insAAAT
Zheng et al[34], 2017	Mainland China	2	M	5	c.3196C>T, c.870-1G>C
			F	5	c.3G>A , c.1572C>A
Xu et al[7], 2017	Mainland China	4	M	9	c.579+1_579+2insACAT, c.1766+5G>T
			M	5	c.595C>T
			F	6	c.1117-1G>C, c.2909G>A
			M	13	c.4056G>C
Liu et al[8], 2017	Mainland China	1	M	11	c.3140-454_c.3367+249del931ins13
Yao et al[35], 2017	Mainland China	1	F	0.5	c.532G>A
Sun et al[36], 2017	Mainland China	1	F	2	C.1 666A>G
Guo et al[37], 2017	Mainland China	1	F	0.75	c.1373G>A(p.G458E), c.271G>A(p.G91R)
Li et al[38], 2017	Mainland China	1	F	1.33	R709X, G970D