OPD Syndrome         
Family Resource Network
Japanese case of oto-palato-digital syndrome type II: an
apparent lack of phenotype–genotype correlation.

T. Kondoh1 , N. Okamoto2, N. Norimatsu1, M. Uetani3, G. Nishimura4 and H. Moriuchi1

(1)  Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-
7-1, Sakamoto, Nagasaki 852-8501, Japan
(2)  Department of Planning and Research, Osaka Medical Center and Research Institute for
Maternal and Child Health, Osaka, Japan
(3)  Department of Radiology, Nagasaki University Graduate School of Biomedical Sciences,
Nagasaki, Japan
(4)  Department of Radiology, Tokyo Metropolitan Kiyose Children’s Hospital, Tokyo, Japan

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.
Keywords  Oto-palato-digital syndrome type II - OPDII - Filamin A gene -  FLNA  - Genotype–
phenotype correlation