Targeted sequencing provides genetic insights into familial cardiovascular disease among young adults in a high consanguinity population

Figures

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  Fig 1. Represent Sanger sequencing chromatograms of LRP6 gene variants. Sanger sequencing chromatograms showing sequence variants identified in the LRP6 gene among the studied patients. (A) Homozygous LRP6 c.146344T > A substitution detected in patients P1 and P2 compared with the wild-type control sequence (C). (B) LRP6 c.146345A > G substitution identified in patients P3–P5, including a homozygous variant in P3 and heterozygous variants in P4 and P5, relative to the control sequence (C). (C) Homozygous LRP6 c.92497C > A substitution identified in patient P6 compared with the corresponding wild-type control sequence C. (D) Representative chromatogram demonstrating the LRP6 c.94776T > A sequence variant identified in patient P7 relative to the control sequence (C). Homozygous variants are characterized by complete nucleotide replacement, whereas heterozygous variants show overlapping dual peaks at the variant position.

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  Fig 2. Agarose gel electrophoresis of PCR-amplified LRP6 gene fragments. Agarose gel electrophoresis showing PCR amplification of the LRP6 gene in control and patient samples. Lane M, DNA molecular weight marker (DNA ladder); lanes P1–P7, PCR-amplified LRP6 gene fragments from patients P1–P7. The presence of distinct bands at the expected amplicon size confirms successful amplification of the target LRP6 gene in all patient samples.

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  Fig 3. Shows sanger sequencing chromatograms of MEF2A gene variants. Sanger sequencing chromatograms showing sequence variants identified in the MEF2A gene among the studied patients. (A) Homozygous MEF2A c.113826A > T substitution detected in patient P8 compared with the wild-type control sequence (C). (B) Homozygous MEF2A c.113802T > C substitution identified in patient P9 relative to the wild-type control sequence (C). Homozygous variants are characterized by complete nucleotide replacement at the variant position compared with the corresponding wild-type sequence.

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  Fig 4. Agarose gel electrophoresis of PCR-amplified MEF2A gene fragments. Agarose gel electrophoresis showing PCR amplification of the MEF2A gene in the wild-type control and patient samples. Lane M, DNA molecular weight marker (DNA ladder); lane C, wild-type control; lane P8, patient carrying the homozygous MEF2A c.113826A > T substitution; and lane P9, patient carrying the homozygous MEF2A c.113802T > C substitution. Distinct bands at the expected amplicon size confirm successful amplification of the target MEF2A gene.

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  Fig 5. Sanger sequencing chromatograms of CYP27A1 gene variants. Sanger sequencing chromatograms showing sequence variants identified in the CYP27A1 gene among the studied patients. (A) Homozygous CYP27A1 c.5924G > C substitution detected in patient P10 compared with the wild-type control sequence (C). (B) Homozygous CYP27A1 c.6016G > C substitution identified in patient P11 relative to the wild-type control sequence (C). (C) Homozygous CYP27A1 c.37440C > T substitution identified in patient P12 compared with the corresponding wild-type control sequence (C). Homozygous variants are characterized by complete nucleotide replacement at the variant position compared with the corresponding wild-type sequence.

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  Fig 6. Agarose gel electrophoresis of PCR-amplified CYP27A1 gene fragments. Gel electrophoresis showing PCR amplification of the CYP27A1 gene in the wild-type control and patient samples. Lane M, DNA molecular weight marker (DNA ladder); lane C, wild-type control; lane P10, patient carrying the CYP27A1 c.5924G > C substitution; lane P11, patient carrying the CYP27A1 c.6016G > A substitution; and lane P12, patient carrying the CYP27A1 c.37404C > T substitution. Distinct bands at the expected amplicon size confirm successful amplification of the target CYP27A1 gene.