Through multidisciplinary interactions between the Neuropediatric and Genetics departments we included DNA of two affected siblings for genetic analysis, using NGS approach accordingly to the novel French national recommendations (Krahn et al., 2019 ).
This family gave informed consent, according to the Declaration of Helsinki, for molecular diagnosis of all four individuals explored (the two asymptomatic parents and two affected siblings). We also obtained consent for medical publication (including pictures of the siblings).
Genetic analysis consisted in clinical exome sequencing using the ClearSeq Inherited Disease Panel (Agilent technologies, CA, USA) on an Ion Proton platform (ThermoFisher Scientific, CA, USA). Sequencing data interpretation was initially focused on 44 genes associated with neuromuscular disorders (Supporting Information ) (Kaplan & Hamroun, 2013 ), before extending analysis to other lists of genes following the novel French national recommendations (Krahn et al., 2019 ).
NGS findings were systematically confirmed, as well as variant familial segregation analysis performed by targeted Sanger sequencing on a 3500XL Genetic Analyzer® (ThermoFisher Scientific).
For the sequence variant nomenclature, we followed the Human Genome Variation Society (HGVS) recommendations and used the GLE1 transcript reference NM_001003722.1.
This family gave informed consent, according to the Declaration of Helsinki, for molecular diagnosis of all four individuals explored (the two asymptomatic parents and two affected siblings). We also obtained consent for medical publication (including pictures of the siblings).
Genetic analysis consisted in clinical exome sequencing using the ClearSeq Inherited Disease Panel (Agilent technologies, CA, USA) on an Ion Proton platform (ThermoFisher Scientific, CA, USA). Sequencing data interpretation was initially focused on 44 genes associated with neuromuscular disorders (
NGS findings were systematically confirmed, as well as variant familial segregation analysis performed by targeted Sanger sequencing on a 3500XL Genetic Analyzer® (ThermoFisher Scientific).
For the sequence variant nomenclature, we followed the Human Genome Variation Society (HGVS) recommendations and used the GLE1 transcript reference NM_001003722.1.