The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/ SLC5A7) causes a lethal form of fetal akinesia syndrome
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A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes (CMS) are caused by pathogenic variants in genes encoding proteins that support the integrity and function of the neuromuscular junction (NMJ). A central component of the NMJ is the sodiumdependent
high-affinity choline transporter 1 (CHT1), a solute carrier protein (gene symbol
SLC5A7), responsible for the reuptake of choline into the nerve termini has recently been implicated as one of several autosomal recessive causes of CMS. We report the identification and functional characterization of a novel pathogenic variant in SLC5A7, c.788C>T (p.Ser263Phe) in an El Salvadorian family with a lethal form of congenital myasthenic syndrome characterized by fetal akinesia. This study expands the clinical phenotype and insight into a form of fetal akinesia related to choline transporter defects and proposes a genotype-phenotype correlation for the lethal form of SLC5A7-related disorder with potential implications for genetic counseling.
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http://purl.org/coar/resource_type/c_6501 http://purl.org/coar/version/c_b1a7d7d4d402bcce http://purl.org/coar/version/c_71e4c1898caa6e32
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en