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Oral Dis. 2017 Sep;23(6):795-800. doi: 10.1111/odi.12663. Epub 2017 Apr 3.

A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.

Author information

1
Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
2
STAR on Craniofacial and Skeletal Disorders, Chulalongkorn University, Bangkok, Thailand.
3
Department of Pediatrics, Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
4
Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
5
Division of Oral Anatomy, Niigata University, Niigata, Japan.

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 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 3rd-5th 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 modeling 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.

KEYWORDS:

GJA1; enamel hypoplasia; mutation; novel; oculodentodigital

PMID:
28258662
DOI:
10.1111/odi.12663
[Indexed for MEDLINE]

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