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Indian J Pediatr. 2013 Aug;80(8):694-6. doi: 10.1007/s12098-012-0889-3. Epub 2012 Nov 22.

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

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  • 1Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, BP, 6402 Al Irfane, Rabat, Morocco. a.bouhouche@um5s.net.ma

Abstract

The neuronal ceroid-lipofuscinosis (NCL) are a heterogeneous group of neurodegenerative diseases characterized by the lysosomal accumulation of ceroid and lipofuscin with mitochondrial ATP synthase subunit C in various tissues. Clinical features include progressive mental and motor deterioration, myoclonus, seizure, visual failure and premature death. Ten CLN genes have been identified, among them CLN6 genes for which 55 disease-causing mutations have already been reported. The authors describe here a large consanguineous Moroccan family with three affected patients due to the p.I154del mutation that has been exclusively reported in Portuguese patients. This is the first published report of a genetic study in a Moroccan family with NCL. A relatively inexpensive CLN6 mutation screening should be considered first in Morocco as an initial diagnosis step when the disease course is consistent with late infantile neuronal ceroid-lipofuscinosis.

PMID:
23180398
[PubMed - indexed for MEDLINE]
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