Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
April 2017
in “
Journal of Investigative Dermatology
”
Studysummary This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities. Our plain-language summary of this paper — not a Tressless recommendation.
The document describes a case of Oculodentodigital syndrome (ODD) in a 2-year-old boy presenting with hypotrichosis and syndactyly type III, without the common neurological, ocular, or craniofacial abnormalities of ODD. A heterozygous missense mutation c.412G>A (p.Gly138Ser) in the GJA1 gene, which was not present in his parents, was identified as the cause. This mutation affects the gap junction protein connexin 43, and the study emphasizes the significance of the glycine residue at position 138 for the protein's function. The case underlines the variable expression of ODD symptoms, suggesting that other connexin proteins may also play a role in the disorder's clinical presentation.
