title: Recurrent COLQ mutation in congenital myasthenic syndrome.
abstract: Congenital myasthenic syndromes comprise clinically and genetically heterogeneous disorders resulting from presynaptic, synaptic, or postsynaptic defects. Mutations in the COLQ gene result in acetylcholinesterase deficiency and cause a rare, autosomal recessive synaptic form of congenital myasthenic syndrome, with variable age of onset and clinical severity. We present four unrelated patients with a homozygous W148X mutation in the COLQ gene. Signs began at birth in all, but subsequent severity ranged from independent ambulation to wheelchair use during childhood. Treatment was partly effective; one patient was asymptomatic with 3,4-diaminopyridine treatment. These cases illustrate the clinical features and treatment results associated with this particular genotype, which appears to be relatively frequent among Turkish patients with congenital myasthenic syndrome.
authors.affiliation: Department of Pediatric Neurology, Ankara Pediatric Disease Hematology and Oncology Training and Research Hospital, Ankara, Turkey.
authors.forename: Alev
authors.initials: A
authors.lastname: Guven
authors.forename: Mehmet
authors.initials: M
authors.lastname: Demirci
authors.forename: Banu
authors.initials: B
authors.lastname: Anlar
mesh_terms: D015761:4-Aminopyridine / Q000031:analogs & derivatives / Q000627:therapeutic use; D000110:Acetylcholinesterase / Q000235:genetics*; D000293:Adolescent; D000077770:Amifampridine; D002648:Child; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D026902:Potassium Channel Blockers / Q000627:therapeutic use
chemical_list: D009124:Muscle Proteins; D026902:Potassium Channel Blockers; D003094:Collagen; D015761:4-Aminopyridine; D000110:Acetylcholinesterase; C114027:COLQ protein, human; D000077770:Amifampridine