Table 1

Details of DNAH11 mutations in 20 unrelated patients with primary ciliary dyskinesia (PCD)

Patient number	Family number	Sex	Situs status	Ciliary EM	Allele 1				Allele 2
Patient number	Family number	Sex	Situs status	Ciliary EM	Ex/Int	Base change (cDNA)	Amino acid change	Seg^*	Ex/Int	Base change	Amino acid change	Seg^*
Homozygous mutations
PCD623^†	UNC101	F	SS	Normal	Ex 25	4438C→T	R1480X	Pat	Ex 25	4438C→T	R1480X	Mat
PCD1022^†	UNC177	M	SS	Normal	Ex 24	4333C→T	R1445X	Pat	Ex 24	4333C→T	R1445X	Mat
OP20-II:1^‡	OP20	M	SI	na	Ex 71	11663G→A	R3888H	na	Ex 71	11663G→A	R3888H	na
Compound heterozygous mutations
PCD108^†	UNC14	M	SI	Normal	Ex 26	4516_4517delCT	L1506SfsX10	Mat	Int 44	7266+1G→A^§	T2379_Q2422del	Pat
PCD157	UNC21	F	SI	Normal	Ex 37	6244C→T	R2082X	Mat	Ex 73	11929G→T	E3977X	Pat
PCD761	UNC126	F	SI	Normal	Int 13	2275-1G→C^§	Y759_E889del	Mat	Ex 81	13213dC	R4405AfsX1	Pat
PCD919^†	UNC147	M	SA	Normal	Ex 80	13065_67delCCT	4356delL	Mat	Ex 80	13075C→T	R4359X	Pat
OP98-II:1^†	OP98	M	SI	Normal	Ex 48	7914G→C^§	W2604X	Pat	Ex 82	13333_34insACCA	I4445NfsX3	Mat
OP406-II:1^†	OP406	M	SI	Normal	Int 23	4254+5G→T^§	E1366_G1418del	Mat	Int 26	4726-1G→A^§	E1576AfsX4	Pat
PCD565	UNC90	M	SI	Normal	Int 33	5778+1G→A^§	V1821TfsX7	Pat	Ex 80	13061T→A	L4354H	Mat
PCD1077	UNC199	F	SI	Normal	Ex 21	3901G→T	E1301X	Pat	Ex 72	11804C→T	P3935L	Mat
PCD1126	UNC222	F	SS	Normal	Ex 74	12064G→C	A4022P	na	Ex 82	13504_05insGAAGA	T4502RfsX14	na
OP235-II:2^†	OP235	F	SI	Normal	Ex 77	12697C→T	Q4233X	Pat	Ex 79	12980T→C	L4327S	Mat
OP41-II:1	OP41	M	SI	Normal	Ex 1	350A→T^§	E117V	na	Ex 44	7148T→C	L2383P	na
PCD812	UNC128	M	SI	na	Ex 34	5815G→A	G1939R	Pat	Ex 82	13373C→T	P4458L	Mat
Heterozygous mutations
PCD998	UNC174	M	SS	Normal	Ex 56	9113_16delAAGA	K3038TfsX13	Pat	–	Unknown	Unknown	–
PCD1033	UNC179	F	SA	Normal	Ex 63	10324C→T	Q3442X	Pat	–	Unknown	Unknown	–
PCD1174	UNC256	F	SS	na	Ex 14	2569C→T	R857X	Mat	–	Unknown	Unknown	–
PCD974	UNC162	F	SS	Normal	Ex 60	9764T→C	L3255S	Mat	–	Unknown	Unknown	–
PCD545	UNC-O	M	SS	Normal	Ex 33	5643A→T	Q1881H	na	–	Unknown	Unknown	–

Additional demographic information is given in online supplement table 2.
↵* Mutant allele shown to segregate from either the father's (paternal) or mother's (maternal) side of the family.
↵† Patients have affected siblings who also carry the same biallelic familial mutations.
↵‡ Consanguineous family.
↵§ Splice site mutations, see details in table 3.
DA, dynein arms; DNAH11, dynein axonemal heavy chain 11; EM, electron microscopy; Ex/Int, exon/intron; F, female; M, male; Mat, maternal; na, not available; Pat, Paternal; SA, situs ambiguus; SI, situs inversus; SS, situs solitus.