BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.
OBJECTIVE
To report a case of Batten disease due to a previously unreported mutation in PPT1.


METHODS
A 9-year-old girl presented with classic clinical findings of Batten Disease.


RESULTS
Genetic testing for the mutations in the most common Batten disease gene, CLN3, was negative. Evaluation of a panel of genes known to be implicated in neuronal ceroid lipofuscinoses revealed disease causing mutations in PPT1, one of which was novel.


CONCLUSIONS
Mutations in PPT1 typically cause the infantile form of neuronal ceroid lipofuscinosis. Clinical diagnosis of the juvenile form of neuronal ceroid lipofuscinosis, Batten disease, should still be considered in cases with negative CLN3 genetic testing. Batten disease can occur due to genetic heterogeneity. Testing of other members of the neuronal ceroid lipofuscinosis gene family can lead to confirmation of the correct diagnosis.
*Retina Consultants, Ltd., Des Plaines, Illinois; †Department of Human Genetics and Pediatrics, University of Chicago, Chicago, Illinois; and ‡Retina Chemical Genomics Laboratory, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois. Metelitsina is now at Eye Care Specialists, LLC, Cape Girardeau, Missouri.
Tatyana I
TI
Metelitsina
Darrel J
DJ
Waggoner
Michael A
MA
Grassi
D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D013869:Thiolester Hydrolases
D008565:Membrane Proteins; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human