Fig. 1

Identification of the de novo variant in the patient. a The graphs present the Whole Exome Sequencing pile-up reads of the region of interest. The red lines highlight the identified de novo NM_004247.4 c.702G > T variant in EFTUD2 gene in the patient (Top graph) compared to its parent. b Electropherograms from Sanger sequencing of a nucleotide change from G to T in the proband (Daughter) compared to her parents. This variant is a heterozygous variant as both alleles harbor a different nucleotide. c Schematic view of EFTUD2 protein structure, with the location of c.702G > T, p.Gly234Gly and of some other variants of different types causing MFDM disease. The synonymous variant identified in our patient is in red, missense mutations are shown in blue, truncating (nonsense and frameshift) mutations are shown in black, and the intron splice donor mutation is shown in green