Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion

Table 4

Individuals with multiple mutations and their severe clinical manifestations.

Case ID	Symptoms	Genes	dbSNP	Variant type	Variants	MAF	CADD
22KAH0010	AAD, AOZ, BI, KFS-SW, CSM, syringomyelia, and cardiac anomalies	MEOX1	rs536283503	UTR3	c.420+133_420+151del	0	—
		KMT5A	rs61955127	Missense	c.995T>C:p.l332p	0	31
22KAH0018	AAD, AOZ, BI, CM, KFS-SW, and CSM	MEOX1	rs536283503	UTR3	c.420+133_420+151del	0	—
		KMT5A	rs61955127	Missense	c.995T>C:p.l332p	0	31
22KAH0006	AAD, AOZ, BI, KFS-SW, CSM, and SCD	MEOX1	rs536283503	UTR3	c.420+133_420+151del	0	—
		KMT5A	rs61955127	Missense	c.995T>C:p.l332p	0	31
22KAE00005	AAD, AOZ, BI, KFS-SW, CSM, cardiac anomalies, and nuchal ligament ossification	MEOX1	rs142430146	UTR5	c.1-19G>A	0.00131754	—
22KAE00057	AAD, AOZ, BI, KFS-SW, CSM, and nerve root sheath cyst	MEOX1	rs142430146	UTR5	c.1-19G>A	0.00131754	—
22KAH0009	AAD, AOZ, BI, KFS-SW, CSM, and ICAA	MEOX1	rs1033265959	UTR3	c.420+146T>A	0	—
22KAH0005	AAD, AOZ, BI, CM, KFS-SW, and CSM	MEOX1	rs1033265959	UTR3	c.420+146T>A	0	—
		KMT5A	rs61955127	Missense	c.995T>C:p.l332p	0	31

Abbreviations: AAD: atlantoaxial dislocation; AOZ: atlas occipitalization; BI: basilar invagination; CM: Chiari malformation; CSM: cervical spinal myelopathy; ICAA: internal carotid artery aneurysm; KFS-SW: sandwich fusion deformity subtype in Klippel-Feil syndrome; SCD: spondylocostal dysostosis.