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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous moroccan family
Indian Journal of Pediatrics, Volume 80, No. 8, Year 2013
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Description
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. © 2012 Dr. K C Chaudhuri Foundation.
Authors & Co-Authors
Bouhouche, Ahmed
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Regragui, Wafaa
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
El Fahime, Elmostafa
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Rabat
Centre National Pour la Recherche Scientifique et Technique
Bouslam, Naïma
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Tazi-Ahnini, Rachid
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Melloul, Marouane
Morocco, Rabat
Centre National Pour la Recherche Scientifique et Technique
Benomar, Ali
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Yahyaoui, Mohamed
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Statistics
Citations: 8
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1007/s12098-012-0889-3
ISSN:
00195456
e-ISSN:
09737693
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Locations
Morocco