A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20.

Autor: Pardal-Fernández JM; Department of Clinical Neurophysiology, Albacete General Hospital, Spain. Electronic address: josempardalfdez@gmail.com., Carrascosa-Romero MC; Department of Pediatrics, Albacete General Hospital, Spain., Álvarez S; Department of Genomics and Medicine, NIMGenetics, Madrid, Spain., Medina-Monzón MC; Department of Pediatrics, Albacete General Hospital, Spain., Caamaño MB; Department of Pediatrics, Albacete General Hospital, Spain., de Cabo C; Research Department, Neuropsychopharmacology Unit, Albacete General Hospital, Spain.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2018 Oct; Vol. 28 (10), pp. 881-884. Date of Electronic Publication: 2018 Jul 06.
DOI: 10.1016/j.nmd.2018.06.020
Abstrakt: 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.
(Copyright © 2018 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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