A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
J Neurol Sci
; 316(1-2): 112-5, 2012 May 15.
Article
en En
| MEDLINE
| ID: mdl-22326364
ABSTRACT
Congenital myasthenic syndromes (CMS) are rare genetic disorders characterized by impaired neuromuscular transmission. They are caused by mutations in synaptic, presynaptic and post synaptic proteins. Rapsyn is a postsynaptic peripheral membrane protein that anchors the nicotinic acetylcholine receptor to the motor endplate. CMS patients of Iraqi and Persian Jewish origin, carry a common founder mutation in the E box of the RAPSN promoter region (-38A-G) that causes impaired transcriptional activities of the promoter region. We describe a Persian Jewish family with two siblings affected with typical CMS, harboring the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT causing an insertion of Threonine in the TPR6 domain. To the best of our knowledge, this is the first mutation in the TPR6 domain and might give supportive evidence to the role of this domain in rapsyn self association and consequently co-clustering with AchR in the post synaptic membrane.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndromes Miasténicos Congénitos
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Proteínas Musculares
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Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
J Neurol Sci
Año:
2012
Tipo del documento:
Article
País de afiliación:
Israel