Radha Rama Devi A*

Rainbow Children Hospital, Road No2., Banjara Hills, Hyderabad, India

*Corresponding Author: Radha Rama Devi A, Rainbow Children Hospital, Road No2., Banjara Hills, Hyderabad, India.

Received: July 24, 2023; Published: October 06, 2023

Abstract

This is a report of a rare case with biallelic mutation in the WNT10A gene with features of hidrotic ectodermal dysplasia. A homozygous pathogenic variant in the WNT10A gene, c.1168G>T p.Glu390Ter was identified in the proband by whole exome sequencing. Sanger sequencing of the parents established the carrier status. The mutation was earlier reported in an Asian Indian in UK at the age of 50yr with eyelid cysts as the clinical manifestation.

Keywords: Odonto-onycho-dermal Dysplasia; OODD; Ectodermal Dysplasia; WNT10A Gene

References

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Citation

Citation: Radha Rama Devi A. “Homozygous WNT10A Variant in an Indian Boy Manifesting Odonto-Onycho-Dermal Dysplasia". Acta Scientific Agriculture 4.11 (2023): 16-18.

Copyright

Copyright: © 2023 Radha Rama Devi A. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.