A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20
| Autor: | M. Bengoa Caamaño, J M Pardal-Fernandez, S. Álvarez, M C Carrascosa-Romero, C. de Cabo, M.C. Medina-Monzón |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Bioinformatics Compound heterozygosity Genetic analysis Diagnosis Differential 03 medical and health sciences 0302 clinical medicine medicine Humans Gene Genetics (clinical) Myasthenic Syndromes Congenital Muscle Weakness Symporters business.industry Infant Newborn Congenital myasthenic syndrome medicine.disease Choline transporter Phenotype 030104 developmental biology Neurology Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) New mutation Neurology (clinical) Differential diagnosis Respiratory Insufficiency business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders. 28:881-884 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2018.06.020 |
| Popis: | Congenital myasthenic syndromes are a group of genetically determined rare diseases resulting from ultrastructural alterations in synaptic proteins. Up to 32 genes are known to be involved in those syndromes and many mutations have been reported, of which less than 8% affect the presynaptic complex. One of these syndromes is caused by the impairment of the presynaptic sodium-dependent high-affinity choline transporter 1, as a result of a mutation of the SCL5A7 gene associated with congenital myasthenic syndrome type 20 (MIM # 617143). We present a new case of this syndrome, caused by a mutation not previously described. A full term infant presented with acute respiratory failure and generalized weakness. The genetic analysis revealed the patient to be compound heterozygous for a new mutation of the SCL5A7 gene. The genetic analysis of congenital myasthenic syndromes provide information on the ultrastructural underlying mechanisms, which is valuable for differential diagnosis and specific treatments. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect