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José P. C. Vasconcellos, MD, PhD; Mônica B. Melo, PhD; Rui B. Schimiti, MD, PhD; Norisvaldo C. Bressanim, MD; Fernando F. Costa, MD, PhD; Vital P. Costa, MD, PhD

Arch Ophthalmol. 2005;123:1422-1426.

Objectives  To describe a Brazilian family with oculodentodigital dysplasia (ODDD) and to screen for mutations in the gap junction protein alpha 1 (GJA1) gene in this family.

Methods  Twelve members of a 3-generation family with ODDD underwent screening for mutations of the GJA1 gene and a comprehensive ophthalmic examination. We defined ODDD on the basis of clinical characteristics described in this syndrome (microdontia, caries, enamel hypoplasia, thin nose, and syndactyly) and eye abnormalities such as microphthalmos, iris atrophy, and glaucoma. Direct sequencing of the GJA1 gene was performed using DNA collected from peripheral blood. A control group of 60 healthy individuals underwent evaluation by means of enzyme digestion.

Results  Among the 8 members of this family who were characterized as having ODDD, 2 showed chronic angle-closure glaucoma, and 1 had open-angle glaucoma. A new mutation in the GJA1 gene was identified, consisting of a change from proline to histidine at codon 59. This mutation segregated through members with the ODDD phenotype. Analysis of the control group by means of restriction fragment length polymorphism (MvaI enzyme) did not disclose this mutation.

Conclusion  Our results demonstrate a new mutation (P59H) in the GJ1A gene, identified in a family with ODDD syndrome.

Clinical Relevance  The presence of different forms of glaucoma in families with ODDD may indicate a new mutation in the GJA1 gene.

Author Affiliations: Departments of Ophthalmology (Drs Vasconcellos, Schimiti, and V. P. Costa) and Clinical Medicine–Hemocentro (Dr F. F. Costa), State University of Campinas, Campinas, Brazil; Department of Physiological Sciences, Santa Casa de São Paulo, São Paulo, Brazil (Dr Melo); Cascavel University Hospital, UNIOESTE (State University of the West of Paraná), Cascavel, Brazil (Dr Bressanim); and Department of Ophthalmology, University of São Paulo, São Paulo, Brazil (Dr V. P. Costa).

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