Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update

Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update

Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement...

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Bibliographic Details
Main Authors: Tayebeh Baranzehi, Dor Mohammad Kordi-Tamandani, Maryam Najafi, Ali Khajeh, Miriam Schmidts
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Journal of Clinical Medicine
Subjects:
CLN2
<i>TPP1</i> gene
c.C832T
R278*
Online Access:https://www.mdpi.com/2077-0383/11/21/6415

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