title: CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
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.
authors.affiliation: Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, BP, 6402 Al Irfane, Rabat, Morocco. a.bouhouche@um5s.net.ma
authors.forename: Ahmed
authors.initials: A
authors.lastname: Bouhouche
authors.forename: Wafae
authors.initials: W
authors.lastname: Regragui
authors.forename: Elmostafa
authors.initials: E
authors.lastname: El Fahime
authors.forename: Naima
authors.initials: N
authors.lastname: Bouslam
authors.forename: Rachid
authors.initials: R
authors.lastname: Tazi-Ahnini
authors.forename: Marouane
authors.initials: M
authors.lastname: Melloul
authors.forename: Ali
authors.initials: A
authors.lastname: Benomar
authors.forename: Mohamed
authors.initials: M
authors.lastname: Yahyaoui
mesh_terms: D003241:Consanguinity; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009018:Morocco; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010375:Pedigree
chemical_list: C447500:CLN6 protein, human; D008565:Membrane Proteins