A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation

Abstract

We report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at birth, including bilateral cataracts, bilateral glaucoma, bilateral severe hearing impairment, congenital heart defect, umbilical herniation, bowed extremities and constrictions of various joints. These clinical features and whole body X-ray findings were compatible with OPD II. However, his ocular disorders such as congenital cataract and glaucoma, and congenital heart defect have never been associated with OPD II as far as we know. His chromosomal analysis revealed normal karyotype, 46,XY. Analysis of the filamin A gene using a standard PCR-direct sequencing method determined a C586T (Arg196Trp) missense mutation in exon 3. Interestingly, the same C586T mutation was reported previously in a patient with OPD I (mild form). Thus, phenotype-genotype correlation of OPD is lacking in those patients. Further clinical and genetic studies are needed to clarify the relationship between phenotypes and genotypes, or to identify other factor(s) that influence the clinical features of this syndrome.