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.