Rochdi Khaoula1,2, Mathieu Cerino3,4,5, Nathalie Da Silva6, Valerie Delague7, Halima Nahili8, Yamna Kriouile9, Svetlana Gorokhova4,3, Marc Bartoli3, Rachid Saïle10, Abdelhamid Barakat8, Martin Krahn4,3. 1. Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik, Hassan II University, Casablanca, Morocco. khaoula.k.ro@gmail.com. 2. Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco. khaoula.k.ro@gmail.com. 3. Inserm, U1251-MMG, Marseille Medical Genetics, Aix-Marseille Université, Marseille, France. 4. Département de Génétique Médicale, APHM, Hôpital Timone Enfants, Marseille, France. 5. APHM, Hôpital de la Conception, Laboratoire de Biochimie, Marseille, France. 6. Faculté des Sciences Médicales et Paramédicales, Marseille Medical Genetics, Aix Marseille Université, INSERM, Marseille, France. 7. INSERM, MMG, UMR 1251, Aix Marseille University, Marseille, France. 8. Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco. 9. Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, and Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco. 10. Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik, Hassan II University, Casablanca, Morocco.
Abstract
BACKGROUND: Congenital myasthenic syndromes (CMS) are associated with defects in the structure and the function of neuromuscular junctions. These rare disorders can result from mutations in the collagenic tail of endplate acetylcholinesterase (COLQ) essentially associated with autosomal recessive inheritance. With the lowered cost of genetic testing and increased access to next-generation sequencing, many mutations have been reported to date. METHODS AND RESULTS: In this study we identified the first COLQ homozygous mutation c.1193T>A in the North African population. This study outlines the genetic and phenotypic features of a CMS patient in a Moroccan family. It also describes a novel COLQ missense mutation associated with CMS-5. CONCLUSION: COLQ mutations are probably underdiagnosed in these North African populations, this is an issue as CMS-5 may be treated with ephedrine, and albuterol. Indeed, patients can seriously benefit and even recover after the treatment that should be planned according to genetic tests and clinical findings.
BACKGROUND: Congenital myasthenic syndromes (CMS) are associated with defects in the structure and the function of neuromuscular junctions. These rare disorders can result from mutations in the collagenic tail of endplate acetylcholinesterase (COLQ) essentially associated with autosomal recessive inheritance. With the lowered cost of genetic testing and increased access to next-generation sequencing, many mutations have been reported to date. METHODS AND RESULTS: In this study we identified the first COLQ homozygous mutation c.1193T>A in the North African population. This study outlines the genetic and phenotypic features of a CMS patient in a Moroccan family. It also describes a novel COLQ missense mutation associated with CMS-5. CONCLUSION: COLQ mutations are probably underdiagnosed in these North African populations, this is an issue as CMS-5 may be treated with ephedrine, and albuterol. Indeed, patients can seriously benefit and even recover after the treatment that should be planned according to genetic tests and clinical findings.
Authors: C Alexander Valencia; Arunkanth Ankala; Devin Rhodenizer; Shruti Bhide; Martin Robert Littlejohn; Lisa Mari Keong; Anne Rutkowski; Susan Sparks; Carsten Bonnemann; Madhuri Hegde Journal: PLoS One Date: 2013-01-11 Impact factor: 3.240