Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia

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, that showed mild ODDD phenotypes, and in his mother, that displayed hemolytic anemia and thrombocytopenia.

Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - September 28, 2022 Category: ENT & OMF Authors: Renato Assis Machado, Herc ílio Martelli Júnior, Shirlene Barbosa Pimentel Ferreira, Letícia Lima Leão, Ricardo D. Coletta, Marcos José Burle Aguiar Tags: Case Report Source Type: research