Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report

Table 1 Timeline of disease course and diagnostic interventions

Age (years)
0	Respiratory distress noted
2	Diagnosed with recurrent otitis media, underwent adenotonsillectomy
4	Exertional dyspnea, chronic cough
7	High-resolution computed tomography, nasal nitric oxide testing, and whole-exome sequencing performed

Table 2 Molecular genetic testing of the patient (sequence variants)

Gene	Variant coordinate	Amino acid change	SNP identifier	Zygosity	In silico parameters	Allele frequencies	Type and classifications
C3orf67	NM_198463.2:c.508C>T	p.Arginine170*	Rs371569928	Homozygous	PolyPhen: N/A	gnomAD: 0.000016	Nonsense
					Align-GVDG: N/A	ESP: -1000	Likely
					SIFT: N/A	gnomAD: N/A	Affecting
					Mutation taste: N/A	CentoMD: N/A	Protein
					Conservation: Weak		Function
					Conservation: Aa		Class 2P1

¹Class 2P: Pathogenic, class 2 (according to American College of Medical Genetics and Genomics - Association for Molecular Pathology Variant Classification Guidelines variant classification guidelines).

SNP: Single nucleotide polymorphism; PolyPhen: Polymorphism phenotyping; N/A: Not applicable; SIFT: Scale-invariant feature transform; gnomAD: Genome Aggregation Database; ESP: Exome Sequencing Project; Aa: Amino acid; CentoMD: CENTOGENE Mutation Database.