@article{ajmcr202081221,
author={{Debnath, Bithi and Nath, Ramesh Chandra and Hoque, Seikh Azimul and Saha, Narayan Chandra},
title={MFSD8 Mutation Causing Neuronal Ceroid Lipofuscinosis Type 7 in a Bangladeshi Patient: A Rare Case Report and Review of Literature},
journal={American Journal of Medical Case Reports},
volume={8},
number={12},
pages={508--511},
year={2020},
url={http://pubs.sciepub.com/ajmcr/8/12/21},
issn={2374-216X},
abstract={The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of inherited neurodegenerative disorders. Their unifying clinical hallmarks are seizures, visual loss, myoclonus, ataxia, cognitive and motor regression which lead to early death. Based on the clinical onset of symptoms NCL-affected individuals have been classified into six categories. Fourteen genetic forms of NCL (CLN1 to CLN14) have been identified so far. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations.We report a patient of 9 years from a consanguineous family who presented with progressive visual loss and seizures. Clinical Exome sequencing reveals a homozygous missense mutation in exon 11 of the <i><b>MFSD8 </b></i>gene (c.1235C>T, p.Pro412Leu). To our knowledge, this is the first report of MFSD8 gene mutation in a Bangladeshi patient with variant late-infantile NCL. This study also provides information regarding the phenotypic and molecular spectrum of CLN7 disease.},
doi={10.12691/ajmcr-8-12-21}
publisher={Science and Education Publishing}
}