Novel PPT1 And TPP1 Gene Mutations Of Batten Disease In Indians

Neuronal ceroid lipofuscinoses type 1 and type II (NCL1 and NCL 2) is known as Batten disease. Batten disease is a neurodegenerative lysosomal storage disorder that occurs due to mutations in the PPT1 and TPP1 genes. In literature, 76 mutations in PPT1 and 140 mutations in TPP1 have been reported previously. A recent report in BMC Neurology, including 34 (12 female and 22 male) unrelated Indian patients of epilepsy, visual impairment, cerebral atrophy, and cerebellar atrophy have studied the mutations by using bidirectional Sanger sequencing and Multiplex Ligation-dependant Probe Amplification.

Results confirmed 12 patients with NCL1 and 22 with NCL2. NCL1 patients showed 3 known mutation and 4 novel variants in the PPT1 gene while in NCL2, 7 known mutations and 8 novel variants were identified in TPP1 . In NCL1 patients novel variant p.Pro238Leu and in NCL2 known mutation p.Arg206Cys…