Table 1. Clinical reports of mutants of TBX6 or T gene contribute to CVM.

Authors	Year	Mutation types	Variants	Number of patients with mutations/total Number of patients	Vertebral Malformations	Other clinical manifestations
Ghebranious et al.[83]	2008	missense	T gene: c.1013C>T p.Ala338Val	3/50	Hemivertebrae, Butterfly vertebrae, Vertebrae fusion, C4 hypoplasia, Absent of S3-S5	Aortic stenosis, Bicuspid valve, Abnormalities of 1st and 2nd rib, Multiple left-sided rib fusions, Adducent left thumb, Conus terminates at L1
Duncan B. Sparrow et al.[84]	2013	stoploss	TBX6 gene: c.1311A>T p.*437Cysext	3/5	Scoliosis, Hemivertebrae, Fused vertebral blocks vertebral blocks	Short stature
Shimojima et al.[85]	2008	CNV	a 593-kb interstitial deletion of 16p11.2	2/3	Hemivertebrae of T10, T12, and L3*	A missing right twelfth rib, hypoplasia of the left twelfth rib
Al-Kateb et al.[86]	2014	CNV	deletion and duplication of 16p11.2 region	15	Congenital scoliosis, Idiopathic Scoliosis	Autism, spectrum, disorders, seizures, Behavioral abnormalities, developmental delay
Qi Fei et al.[87]	2010	SNP	rs2289292 and rs3809624	127	Congenital scoliosis	Deformities in syndrome associated with CVM
		CNV	deletion of 16p11.2 region + T-C-A#	17/237	Butterfly, Hemivertebrae, thoracic wedge vertebra	Rib abnormalities (missing ribs and bifurcation of ribs)
Wu et al.[88]	2015	frameshift	TBX6: c.1169_1170insC + T-C-A	1/237	Left L2 hemivertebra, T8 butterfly vertebra	None
		frameshift	TBX6: c.1250_1251insT + T-C-A	1/237	Left lumbar hemivertebra, atrial septal defect	Missing bilateral 12th ribs
		frameshift	TBX6: c.266_267insC + T-C-A	1/237	Left hemivertebra between T12 and L1	Missing right 12h rib
		frameshift	TBX6: c.704_705insG + T-C-A	1/237	Left T12 hemivertebra	Missing right 12th rib
		frameshift	TBX6: c.1179_1180delAG + T-C-A	1/237	Right T12 hemivertebra	Missing left 12th rib
		nonsense	TBX6: c.844C>T (p.R282X) + T-C-A	1/237	T1 and L3 butterfly vertebrae, Right T4 hemivertebra, Left T7 hemivertebra	None

CNV: copy number variation; SNP: Single nucleotide polymorphism

^#T-C-A (rs2289292, rs3809624 and rs3809627) is risk haplotype in other allele of TBX6

^*The proband and his mother share the same deletion, while his mother is a normal phenotype. The “Vertebral Malformations” and “Other clinical manifestations” refer to the proband's deformities.