case_images: PMC4862320_01
case_images: Family Pedigree of the Patient
case_images: ircmj-18-02-21633-i001.jpg
case_images: PMC4862320_01_ircmj-18-02-21633-i001.jpg
case_images: fig24907
case_images: His parents were first cousins with no family history of PKU (Figure 1).
case_images: A, gel electrophoresis of PCR products of exon 2 and 3; 1, absence of exon 3 in patient, 2 and 3, presence of exon 3 in the father and mother. B, gel electrophoresis of PCR products using primers for introns 2 and 3; 1, 1120 base pair band due to deletion in patient; 2, absence of the band in normal control; 3 and 4, presence of the band in heterozygous father and mother.
case_images: ircmj-18-02-21633-g001.jpg
case_images: PMC4862320_01_ircmj-18-02-21633-g001.jpg
case_images: fig24908
case_images: In our patient, a 1120 bps segment was amplified (Figure 2) that demonstrated a large deletion of 4765 bps (g.21560-26324del4765) containing exon 3, and results were confirmed by Sanger sequencing (Figure 3) too.
case_images: Sequencing Result of 1120 bps Product in Patient Show Deletion of Large Segment Containing Exon 3. The Deletion Occurred Within Alu Repeat Segment.
case_images: ircmj-18-02-21633-i002.jpg
case_images: PMC4862320_01_ircmj-18-02-21633-i002.jpg
case_images: fig24909
case_images: In our patient, a 1120 bps segment was amplified (Figure 2) that demonstrated a large deletion of 4765 bps (g.21560-26324del4765) containing exon 3, and results were confirmed by Sanger sequencing (Figure 3) too.