Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

作者：Tasdelen Elifcan^*; Durmaz Ceren D; Karabulut Halil G

来源：Cytogenetic and Genome Research, 2018, 154(4): 181-186.

DOI：10.1159/000489000

• GJA1
• Oculodentodigital dysplasia
• ODDD
• Microphthalmia
• Syndactyly

Oculodentodigital dysplasia ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ODDD is caused by mutations in the GJA1 gene in chromosome 6q22 and inherited in an autosomal dominant manner in the majority of the patients. However, in recent clinical reports, autosomal recessive ODDD cases due to by GJA1 mutations were also described. Here, we report on a 14-year-old boy with microphthalmia, microcornea, narrow nasal bridge, hypoplastic alae nasi, prominent columnella, hypodontia, dental caries, and partial syndactyly of the 2nd and 3rd toes. These clinical findings were concordant with the diagnosis of ODDD, and a novel homozygous mutation c. 442C>T, p. Arg148Ter) was determined in the GJA1 gene leading to a premature stop codon. His phenotypically normal parents were found to be carriers of the same mutation. This is the third family in the literature in which ODDD segregates in an autosomal recessive manner.

• 出版日期2018