The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Running Number | FH | Affected Gene | Variant | ACMG Variant Classification | |
---|---|---|---|---|---|
1 | Type 2 OMIM #144010 AD * | APOB | NM_000384.3:c.10580G>A rs5742904 (p.Arg3527Gln) | Heterozygous | Likely pathogenic |
2 | Type 1 OMIM #143890 AR */AD | LDLR | NM_000527.5:c.1618G>A rs769370816 (p.Ala540Thr) | Heterozygous | Pathogenic |
3 | Type 1 OMIM #143890 AD/AR | LDLR | NM_000527.5:c.502G>A rs200727689 (p.Asp168Asn) | Heterozygous | Pathogenic |
4 | Type 1 OMIM #143890 AD/AR | LDLR | NM_000527.5:c.81C>G rs2228671 (p.Cys27Trp) | Heterozygous | Likely pathogenic |
5 | Type 3 OMIM #603776 AD | PCSK9 | NM_174936.4:c.836C>T rs1049662014 (p.Pro279Leu) | Heterozygous | VUS |
6 | Type 3 OMIM #603776 AD | PCSK9 | NM_174936.4:c.836C>T rs1049662014 (p.Pro279Leu) | Heterozygous | VUS |
Study Group (n =10) | Negative Genetic Testing (n = 4) | Positive Genetic Testing (n = 6) | |
---|---|---|---|
Gender | 4 girls 6 boys | 2 girls 2 boys | 2 girls 4 boys |
Positive family history | 4 cases | 3 cases | 1 cases |
Mean age | 9.9 years (±3.6) | 10.5 years (±4.7) | 9.5 years (±3.1) |
BMI | 22.0 (±8.8) | 26.0 (±9.7) | 18.0 (±6.6) |
Mean systolic blood pressure | 115.8 mmHg (±13.3) | 130.0 mmHg (±2.6) | 108.7 mmHg (±13.9) |
Mean diastolic blood pressure | 65.2 mmHg (±5.2) | 68.7 mmHg (±6.1) | 63.3 mmHg (±4.1) |
Study Group (n = 10) | Negative Genetic Testing (n = 4) | Positive Genetic Testing (n = 6) | p | |
---|---|---|---|---|
Total cholesterol | 233.1 mg/dL (±37.0) | 213.8 mg/dL (±20.1) | 246.0 mg/dL (±41.6) | 0.20 |
LDL-cholesterol | 163.5 mg/dL (±28.9) | 152.8 mg/dL (±21.6) | 170.7 mg/dL (±32.8) | 0.33 |
HDL-cholesterol | 59.0 mg/dL (±16.0) | 49.8 mg/dL (±13.2) | 65.2 mg/dL (±25.6) | 0.13 |
ApoA | 146.9 mg/dL (±31.4) | 115.0 mg/dL (±14.1) | 157.5 mg/dL (±28.3) | 0.09 |
ApoB | 122.3 mg/dL (±20.0) | 114.5 mg/dL (±0.7) | 124.8 mg/dL (±22.9) | 0.50 |
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Constantin, A.T.; Delia, C.; Roșu, L.M.; Roșca, I.; Streață, I.; Riza, A.-L.; Gherghina, I. The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study. Medicina 2024, 60, 1602. https://doi.org/10.3390/medicina60101602
Constantin AT, Delia C, Roșu LM, Roșca I, Streață I, Riza A-L, Gherghina I. The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study. Medicina. 2024; 60(10):1602. https://doi.org/10.3390/medicina60101602
Chicago/Turabian StyleConstantin, Andreea Teodora, Corina Delia, Lucia Maria Roșu, Ioana Roșca, Ioana Streață, Anca-Lelia Riza, and Ioan Gherghina. 2024. "The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study" Medicina 60, no. 10: 1602. https://doi.org/10.3390/medicina60101602