A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation.
OBJECTIVE
To report a case of oculodentodigital dysplasia syndrome (ODDD) with a heterozygous mutation in GJA1 (connexin 43) gene.


METHODS
A 9-year-old girl visited our hospital complaining of visual disturbances. The patient had microphthalmia, a small nose with hypoplastic alae nasi, and syndactyly. Visual acuity with prescribed glasses improved to 0.5 (1.2) OU 2 months after the first visit. She was satisfied with the new glasses and the improvement in visual acuity. Genomic DNA was extracted from leukocytes of the patient's peripheral blood in accordance with standard procedures, after obtaining parental informed consent. We amplified GJA1 exon 2 from her genomic DNA by the PCR method, and sequenced the product using the dye terminator method.


RESULTS
S5C (c. 13A > T), a novel mutation in exon 2 of GJA1, was found in the patient. The parents had no mutation of GJAI, nor was there any sign of abnormality in other family members. No similar mutation could be found in the 50 genotyped normal subjects in the control group.


CONCLUSIONS
A novel GJA1 mutation was detected in a Japanese ODDD patient. Glaucoma complications associated with ODDD have already been reported. Careful long-term monitoring and treatment are also necessary.
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
Momoko
M
Himi
Takuro
T
Fujimaki
Toshiyuki
T
Yokoyama
Keiko
K
Fujiki
Toshiaki
T
Takizawa
Akira
A
Murakami
D000867:Anterior Chamber / Q000002:abnormalities; D002648:Child; D018031:Connexin 43 / Q000235:genetics*; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005139:Eyeglasses; D005260:Female; D006801:Humans; D008850:Microphthalmos / Q000235:genetics*; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013576:Syndactyly / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics / Q000628:therapy; D014792:Visual Acuity
D018031:Connexin 43; C500216:GJA1 protein, human