A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

Table 1 Clinical and histological characterisation of patients homozygous for CCDC103 p.His154Pro

Patient	ODA	IDA	Motility	PCD	Laterality	Other	Origin	Cons	Ref
UCL-143	Complete	Complete	n.a.	+	Normal		Pakistani	yes	3
II1	loss	loss				-
OP-1194	n.a	n.a	n.a.	+	Dextrocardia		Pakistani	yes	3
II1						-
OP-32	Reduction of ODAs	No defect reported	Reduced cilia beat amplitude	+	SI totalis		German	no	3
II1						-
OP-32	n.a.	n.a	Loss of beat coordination, and cilia paralysis	+	SI abdominalis		German	no	3
II2				+		-	Italian	no	4
D’Andrea et al. II-2	n.a	n.a	n.a.	+	SI totalis	AVSDPFO	Italian	no	4
D’Andrea et al. II-3	n.a	n.a	n.a.	+	SI totalis	AVSDOS	Irish Traveller	yes	c.s.
Casey et al. V:1	Reduction in ODAs	Reduction in IDAs	n.d.	+	SI	-	Irish Traveller	yes	c.s.
Casey et al. V:2	Reduction in ODAs	Reduction in IDAs	n.d.	+	SI totalis	-
Casey et al. V:3	n.d.	n.d.	n.d.		Left atrial isomerism	AVSD	Irish Traveller	yes	c.s.

Features that are present and absent are denoted by + and – respectively. Abbreviations: AVSD atrioventricular septal defect, Cons consanguinity, c.s. current study, IDA inner dynein arm defects, n.a not available, n.d. not done, ODA outer dynein arm defects, OS ostium secundum, PCD primary ciliary dyskinesia, PFO patent foramen ovale, Ref reference, SI situs inversus, SI totalis situs inversus including dextrocardia