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The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/ SLC5A7 ) causes a lethal form of fetal akinesia syndrome
Author(s) -
Banerjee Mayukh,
Arutyunov Denis,
Brandwein Daniel,
JanetzkiFlatt Cassandra,
Kolski Hanna,
Hume Stacey,
Leonard Norma Jean,
Watt James,
Lacson Atilano,
Baradi Monica,
Leslie Elaine M.,
Cordat Emmanuelle,
Caluseriu Oana
Publication year - 2019
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23828
Subject(s) - biology , phenotype , congenital myasthenic syndrome , mutation , transporter , genetics , gene , solute carrier family , choline , fetus , microbiology and biotechnology , endocrinology , pregnancy
Abstract 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 sodium‐dependent high‐affinity choline transporter 1 (CHT1), a solute carrier protein (gene symbol SLC5A7 ), responsible for the reuptake of choline into 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 a congenital myasthenic syndrome characterized by fetal akinesia. This study expands the clinical phenotype and insight into a form of fetal akinesia related to CHT1 defects and proposes a genotype‐phenotype correlation for the lethal form of SLC5A7 ‐related disorder with potential implications for genetic counseling.