Fig. 2

(a) The IGV image showing a deletion of two exons 4 and 5 in the CTNS gene detected by the Ion Torrent next-generation sequencing platform. (b) Sequencing diagram of cDNA showing the homozygous deletion of the two exons 4 and 5 in CTNS gene (1) in compare to an normal sequence (2). (c) Image of agarose gel after RT-PCR amplification products electrophoresis. (V; 3): the RT-PCR amplified products gel analysis showing the presence of a small fragment comparing to those of a normal sample. (NC): the RT-PCR reaction products gel analysis of a normal sample. (V; 2): Agarose gel analysis of the RT-PCR amplified products of the future husband, which showed the presence of two fragments, one fragment has the same size as those of the control sample and the other fragment has the same size of the patient’s sample. (V; 1): The Agarose gel analysis of the future wife, showing the presence of one fragment of the amplified target cDNA who have the same size as those of the control sample. (N): Negative control. (In the chapter “Results”)