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Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in GJA1 (gap junction alpha-1) gene and inherited in an autosomal dominant pattern. However, an autosomal recessive pattern is also reported. Here we described 2 families with members affected by ODDD. In the first family, the c.752G>C (p.S251T) and c.848C>T (p.P283L) heterozygous missense mutations and the c.825C>T (p.T275T) silent mutation were identified in the proband, which showed mild ODDD phenotypes, and in his mother, which displayed hemolytic anemia and thrombocytopenia. In the second family, the patients displayed typical features of ODDD, and Sanger sequencing identified a novel homozygous c.604C>T (p.R202C) missense mutation, whereas the parents carried the mutation. Together, these findings suggest that homozygous mutation in GJA1 induces a more severe ODDD phenotype, though interfamilial phenotype variability was observed, whereas compound heterozygous mutations in GJA1 cause a mild phenotype. Copyright © 2022 Elsevier Inc. All rights reserved.


Renato Assis Machado, Hercílio Martelli Júnior, Shirlene Barbosa Pimentel Ferreira, Letícia Lima Leão, Ricardo D Coletta, Marcos José Burle Aguiar. Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia. Oral surgery, oral medicine, oral pathology and oral radiology. 2023 Jan;135(1):96-100

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PMID: 36396593

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