Table 1.

Details of DNAH11 mutations in 20 unrelated patients with Primary Ciliary Dyskinesia^††

Patient Number	Family Number	Sex	Situs Status	Ciliary EM	Allele 1				Allele 2

					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 in Supplement Table E1.

Mutant allele shown to segregates from either the father (Paternal) or mother's (maternal) side of the family.

^†

Patients have affected siblings who also carry same biallelic familial mutations.

^‡

Consanguineous family.

^§

Splice site mutations, see details in Table 3.

Abbreviations:

M = Male, F = Female, SI = Situs inversus, SA = Situs ambiguus, SS = Situs solitus, na = Not available, DA = dynein arms, EM = Electron microscopy Ex/Int = exon/intron, Mat = Maternal, Pat = Paternal