PMC5960644_01
Segregation status of the mutation and Sanger confirmation of c.99_106dupGAGCCCGG mutation in the proband. a Pedigree information and segregation status of the ADAT3 8-bp duplication. b Chromatogram of the c.99_106dupGAGCCCGG, p.(Glu36Glyfs*44) mutation
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PMC5960644_01_41439_2018_7_Fig1_HTML.jpg
Fig1
She was born to healthy Iranian consanguineous parents (Fig. 1a). Through our targeted sequencing, we identified a homozygous 8-bp duplication in ADAT3 (c.99_106dupGAGCCCGG, p.(Glu36Glyfs*44); Fig. 1b). We confirmed both parents as heterozygous carriers (Fig. 1b), agreeing with the autosomal-recessive mode of inheritance.