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Table 2 Clinical information and mutations of TBX1 cis-regulatory element in patients with CTD

From: Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation

Patient no

Gender

Age

Cardiac phenotype

Variant (NC_000022.11)

Location

Relative position*

1000 Genomes allele frequency

Gnomad allele frequency

91-PF

F

22 months

PA/VSD/PDA

g.19756832C > G

intron1

130 bp

–

–

193-PF

M

26 months

TOF

g.19756845C > T

intron 1

143 bp

0.0006000

0.00009866

40-PF

M

16 months

TGA/VSD/PS

g.19756902G > T

intron1

200 bp

0.0002000

0.00001317

  1. F, female; M, male; PA, pulmonary atresia; VSD, ventricular septal defect; PDA, patent ductus arteriosus; TOF, tetralogy of Fallot; TGA, transposition of the great arteries; PS: pulmonary stenosis
  2. *Variants were located relative to the transcription start site of TBX1 gene at g.19756703 (+1) of NC_000022.11
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172