The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis

Wang, Muchuan; Li, Ziquan; Zhao, Sen; Zheng, Zhifa; Wang, Yipeng; Qiu, Guixing; Wu, Zhihong; Wu, Nan; Zhang, Terry Jianguo; Cai, Siyi

doi:10.1186/s13619-022-00116-9

Cell Regeneration

Table 1 Genetic description of the PAX7 variants and clinical features of the patients

From: The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis

	Individual 1	Individual 2	Individual 3	Individual 4	Individual 5	Individual 6	Individual 7	Individual 8	Individual 9
Patient ID	SCO2003P0422	SCO2003P0034	SCO2003P0217	SCO2003P0227	SCO2003P0149	SCO2003P1819	SCO2003P1851	SCO2003P1969	SCO2003P2362
Age	13	14	11	10	12	15	13	3	7
Gender	Female	Female	Female	Female	Female	Female	Male	Female	Male
Mutation Type	Missense	Missense	Missense	Missense	Stop-gained	Missense	Missense	Missense	Missense
cDNA Variant (NM_002584.2)	c.845C > T	c.1375G > A	c.1376G > A	c.917C > T	c.1485C > A	c.1360G > A	c.1387G > A	c.845C > T	c.1387G > A
Protien Variant	p.Ala282Val	p.Gly459Ser	p.Gly459Asp	p.Pro306Leu	p.Tyr495Ter	p.Val454Met	p.Gly463Ser	p.Ala282Val	p.Gly463Ser
gnom AD Frequency	6.47E-05	1.00E-03	0	0	0	0	9.69E-05	6.47E-05	9.69E-05
CADD score	14.8	11.96	14.01	15.95	37	7.196	10.38	14.8	10.38
GERP++ score	4.82	2.94	3.91	3.75	−1.68	4.84	2.93	4.82	2.93
SIFT	Tolerated	Tolerated low confidance	Deleterous low confidance	Deleterous	N/A	Tolerated low confidance	Tolerated low confidance	Tolerated	Tolerated low confidance
Mutation Assessor	Low	N/A	Low	Medium	N/A	N/A	N/A	Low	N/A
CS Classification	III	II	III	III	II	III	I	I	III
Vertebral Abnormalities	Vertebral fusion (L1-2); Spine bifida (L2, L3, L5, S2)	Failure of segmentation (T7-9)	Failure of segmentation (T1-T7); Butterfly vertebra (T6); Absence of T2 vertebra	Vertebral fusion (C7-T10); Butterfly vertebra; Hemivertebra	Lamina fusion (T5-9); Failure of segmentation	Failure of segmentation (C3-5); Hemivertebra (T3)	Butterfly vertebra (L4); Hemivertebra (L5)	Butterfly vertebra (T2, T3); Hemivertebra (T5, T7)	Failure of segmentation (C3-5); Spine bifida (T1); Cuneiform vertebrae (T6)
Skeletal deformity	No	Pigeon chest; Rib fusion (5,6th)	No	No	No	No	Sacrum deformity	Absence of ribs (5,6th)	No
Craniofacial	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Respiration	Normal	Normal	Restrictive ventilation dysfunction	Restrictive ventilation dysfunction	Restrictive ventilation dysfunction	Normal	Normal	Normal	Congenital atelectasis of left lung
Muscle tonus	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Upper limbs grade 4; Lower limbs grade 4+
Cardiac	Normal	Normal	Tricuspid regurgitation (mild-moderate)	Normal	Normal	Normal	Normal	Normal	Patent ductus arteriosus
Spinal cord	Diaste-matomyelia; Low position spinal cord; Sacral canal cyst	No	Syringomyelia	Diaste-matomyelia; Syringo-myelia	Diaste-matomyelia	No	No	No	Syringomyelia (T4-10)
Other deformities	None	None	None	Absence of spleen	None	None	None	None	None

cDNA complementary DNA

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