Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.
OBJECTIVE
To present the results of the clinical and molecular analyses of a familial case of Wolfram Syndrome (WFS) associated with a novel ocular anomaly.


METHODS
Full ophthalmologic examination was performed in two WFS siblings. Visante OCT imaging was used for assessing anterior segment anomalies. Genetic analysis included PCR amplification and exon-by-exon nucleotide sequencing of the WFS1 gene.


RESULTS
Ocular anomalies in both affected siblings included congenital cataract, glaucoma, and optic atrophy. Interestingly, microspherophakia, a feature that has not been previously associated with WFS, was observed in both siblings. Genetic analysis disclosed a novel c.1525_1539 homozygous deletion in exon 8 of WFS1 in DNA from both affected patients.


CONCLUSIONS
The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome.
Genetics Department-Research Unit, Institute of Ophthalmology "Conde de Valenciana" , Mexico City , Mexico.
Oscar
O
Chacón-Camacho
Rocio
R
Arce-Gonzalez
Mariella
M
Granillo-Alvarez
Sanjuanita
S
Flores-Limas
Magdalena
M
Ramírez
Juan C
JC
Zenteno
D000293:Adolescent; D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007908:Lens, Crystalline / Q000002:abnormalities*; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D035781:Siblings; D041623:Tomography, Optical Coherence; D014929:Wolfram Syndrome / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
D008565:Membrane Proteins; C114987:wolframin protein