Whole exome sequencing uncovers key genetic variants in congenital tooth agenesis: an integrative omics approach

Prashant Ranjan

doi:10.1016/j.gene.2026.150278

Whole exome sequencing uncovers key genetic variants in congenital tooth agenesis: an integrative omics approach

2026-06-23

0

PRE

AI

P

Prashant Ranjan

C

Chandra Devi

N

Neha Verma

R

Rajesh Bansal

V

Vinay Kumar Srivastava

R

Rimjhim Kumari

P

Parimal Das *

DOI：10.1016/j.gene.2026.150278

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• WES identified novel and known variants in EDA, WNT10A, PAX9, and TSPEAR linked to CTA. • Dual-level effects of variants observed altered RNA profiles and compromised protein stability. • Omics link CTA genes to systematic diseases. • OR4F21 p. (Lys310Arg) and MRTFB p.(Ala135=) common in all CTA cases. • No prior disease association of OR4F21; newly linked to CTA in this study.

Whole exome sequencing uncovers key genetic variants in congenital tooth agenesis: an integrative omics approach

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