A novel GJA1 mutation in oculodentodigitaldysplasia with extensive loss of enamel

Abstract

Objective

To characterize clinical features and identify genetic causes of a patient with oculodentodigital dysplasia (ODDD)

Subjects And Methods

Clinical, dental, radiological features were obtained. DNA was collected from an affected Thai family. Whole Exome Sequencing (WES) was employed to identify the disease-causing mutation causing ODDD. The presence of the identified variant was confirmed by Sanger sequencing.

Results

The proband suffered with extensive enamel hypoplasia, polysyndactyly and clinodactyly of the 3^rd-5^th fingers, microphthalmia, and unique facial characteristics of ODDD.Mutation analysis revealed a novel missense mutation, c. 31C>A, p.L11I, in the GJA1 gene which encodes gap junction channel protein connexin 43. Bioinformatics and structural modelling suggested the mutation to be pathogenic. The parents did not harbor the mutation.

Conclusions

This study identified a novel de novo mutation in the GJA1 gene associated with severe tooth defects. These results expand the mutation spectrum and understanding of pathologic dental phenotypes related to ODDD.

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