Abstract | BACKGROUND: METHOD: RESULTS: We observed that the severity of the phenotype in the two affected children differed. One child had mild symptoms that included difficulties in gait and feeding with mild respiratory insufficiency. Her sibling died in the first months of life because of severe respiratory failure. The second patient had severe symptoms from birth and has been mechanically ventilated. DNA sequencing revealed a novel homozygous single nucleotide substitution mutation (c.1010T>C) in the COLQ gene in both patients. This substitution leads to a missense amino acid substitution at position 337 of the protein (p.Ile337Thr). This mutation is likely to impair ColQ's trimeric organization and therefore its anchoring within the synaptic basal lamina. CONCLUSION: We identified the molecular cause underlying congenital myasthenic syndrome in two patients. The marked phenotypic variation suggests that other factors including modifier genes may affect the severity of this disease.
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Authors | Hussein N Matlik, Reham M Milhem, Imad Y Saadeldin, Hayat S Al-Jaibeji, Lihadh Al-Gazali, Bassam R Ali |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 51
Issue 1
Pg. 165-9
(Jul 2014)
ISSN: 1873-5150 [Electronic] United States |
PMID | 24938146
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2014 Elsevier Inc. All rights reserved. |
Chemical References |
- Muscle Proteins
- Collagen
- Creatine Kinase
- Acetylcholinesterase
- COLQ protein, human
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Topics |
- Acetylcholinesterase
(genetics, metabolism)
- Child
- Collagen
(genetics, metabolism)
- Creatine Kinase
(blood)
- Family Health
- Female
- Humans
- Infant
- Muscle Proteins
(genetics, metabolism)
- Mutation, Missense
(genetics)
- Myasthenic Syndromes, Congenital
(enzymology, genetics, pathology)
- Syria
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