TABLE 2.

Genetic features of 14 Chinese children (13 families) with PCD who presented to the referral center in central China.

Patient no.	Gene	Nucleotide change	Amino acid change	dbSNP	Type of variant	Source	Pathogenic significance	Genotype	Inheritance pattern	Reported/novel
1/2	DNAAF2	c.156C>A	p.Y52*	rs2139584419	Nonsense	M	Pathogenic	Compound heterozygous	AR	Reported
		c.177dup	p.E60Rfs*3	NA	Frameshift	P	Pathogenic			Reported
3	DNAH11	c.2135dup	p.N713Kfs*9	NA	Frameshift	M	Pathogenic	Compound heterozygous	AR	Novel
		c.8579G>A	p.G2860D	rs749830026	Missense	P	Uncertain			Novel
4	DNAH5	c.11178_11181dup	p.L3728Vfs*37	NA	Frameshift	M	Pathogenic	Compound heterozygous	AR	Novel
		c.8030G>A	p.R2677Q	rs886043448	Missense	P	Uncertain			Reported
5	DNAH5	c.11029-2A>T	-	rs369312501	Splicing	M	Pathogenic	Compound heterozygous	AR	Novel
		c.5563dup	p.I1855Nfs*6	rs752925056	Frameshift	P	Pathogenic			Reported
6	DNAH11	c.1452T>G	p.F484L	rs755256285	Missense	M	Uncertain	Compound heterozygous	AR	Reported
		c.727A>G	p.I243V	rs189000268	Missense	P	Uncertain			Reported
7	DHAH5	c.670C>T	p.R224*	rs771463510	Nonsense	M	Pathogenic	Compound heterozygous	AR	Reported
		c.7954A>G	p.M2652V	NA	Missense	P	Uncertain			Novel
8	DNAH5	c.12034-?_12499+?del	-	NA	Large deletion	M/P	Pathogenic	Homozygous	AR	Novel
9	DNAH5	c.4356-158T>G	-	rs1376282258	Sequence variation	M	Uncertain	Compound heterozygous	AR	Novel
		c.8839A>G	p.T2947A	NA	Missense	P	Uncertain			Novel
10	DNAH5	c.8030G>A	p.R2677Q	rs886043448	Missense	M	Uncertain	Compound heterozygous	AR	Reported
		c.12779A>G	p.D4260G	NA	Missense	P	Uncertain			Novel
11	DNAH11	c.5500C>T	p.R1834C	rs180897552	Missense	M	Uncertain	Compound heterozygous	AR	Novel
		c.13183C>T	p.R4395*	rs757784023	Nonsense	P	Pathogenic			Reported
12	DNAH9	c.13306C>T	p.P4436S	rs753449749	Missense	M	Uncertain	Compound heterozygous	AR	Novel
		c.1670C>T	p.P557L	rs372282496	Missense	P	Uncertain			Novel
13	DNAAF6	c.429 + 1G>A	-	NA	Splicing	M	Pathogenic	Heterozygous	XLR	Novel
15	DNAAF3	c.289G>C	p.A97P	NA	Missense	P	Uncertain	Compound heterozygous	AR	Novel
		c.1-?_1827+?del	-	NA	Large deletion	M	Pathogenic			Novel

Novel variants are formatted in bold.

AR, autosomal recessive; dbSNP, single nucleotide polymorphism database; M, maternal; NA, not applicable; P, paternal; XLR, X-linked recessive.