Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Review

Table 5

Summary of different gene mutations in AR-CGD patients from Mainland China.

Patient; number	Mutation; gene	Mutation type	Nt.; change	AA.; change	Reference
P37	CYBA	Nonsense	c.7C>T	p.Q3X	This study
P41	NCF1	Deletion; missense	c.541delG; 923T>C★	p.D181TfsX5; p.V308A	This study
P43	NCF2	Missense	c.550C>T	p.R184X	This study
p136	NCF2	Missense	c.137T>G	p.M46R	[16]
p137	NCF2	Deletion	c.1130_1135delACATGG	p.D377_M378del	[16]
p138	CYBA	Nonsense	c.7C>T	p.Q3X	[16]
p139	CYBA	Missense	c.7C>T	p.Q3X	[23]
p140	CYBA	Missense; splicing error	c.7C>T; 59-2A>G	p.Q3X; exon 2_del?	[23]
p141	CYBA	Missense	c.152T>G	p.L51R	[15]
p142	CYBA	Deletion	c.246_273del	p.F83SfsX98	[15]
p143	NCF1	Deletion	c.75_76delGT	p.Y26HfsX25	[26]
p144	NCF1	Deletion	c.75-76delGT	p.Y26HfsX25	[15]
p145	NCF1	Deletion	c.75-76delGT	p.Y26HfsX25	[15]
p146	NCF1	Deletion; missense	c.763-800del; c. 923T>C	p.E254_R267del; p.V308A	[15]

Pts: patients; Nt.: nucleotide; AA.: amino acid; del: deletion; AR: autosomal recessive.
★: novel mutation found in this study.
P37, P41, and P43 were the patients reported in the present study and P136–146 were the patients reported previously from Mainland China.