Összesen 2 találat.


001-es BibID:BIBFORM090297
035-os BibID:(cikkazonosító)e12184
Első szerző:Juhász Lilla (általános orvos)
Cím:A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient / Juhász Lilla, Balogh István, Madar László, Kovács Beáta, Harangi Mariann
Megjegyzések:Familial hypercholesterolaemia (FH) is characterized by high plasma low density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease risk. Mutations in the genes that encode proteins involved in LDL uptake and catabolism, including LDL-receptor (LDLR) and apolipoprotein-B (APOB), are known to cause FH. We present the case of a severely affected FH proband with two mutations in two different causing genes and characterize her first-degree blood relatives. The proband was a 54-year-old woman with a severe FH phenotype with treated LDL-C of 8.3 mmol/L, total cholesterol (TC) level of 11.6 mmol/L, peripheral artery disease, early myocardial infarction, aortic stenosis, and carotid artery disease. Exons of the LDLR and APOB genes were amplified by polymerase chain reactions (PCR). PCR products were examined by pyrosequencing and proven by bidirectional DNA sequencing. The proband was heterozygous for both the LDLR c.420G>C (p.Glu140Asp) mutation known to be pathogenic and a rare APOB c.10708C>T (p.His3570Tyr) mutation with unproven pathogenicity. Cascade testing has been performed in her 15 firstdegree blood relatives. Her daughter carries only the LDLR c.420 G>C mutation with a TC of 8.4 mmol/L. Her two sisters carry only the APOB c.10708C>T with a TC of 5.7 and 6.2 mmol/L. This case provides evidence that the rare APOB c.10708C>T mutation alone is not pathogenic, but has a synergic effect on LDLR mutation. The finding is important for understanding the genotype-phenotype correlation and highlights the need to consider the presence of additional mutations in FH families where relatives have varying phenotypes.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
double heterozygous
autosomal dominant hypercholesterolaemia
familial hypercholesterolaemia
Megjelenés:Cureus. - 12 : 12 (2020), p. 1-5. -
További szerzők:Balogh István (1972-) (molekuláris biológus, genetikus) Madar László (1972-) (klinikai laboratóriumi kutató) Kovács Beáta (1989-) (belgyógyász) Harangi Mariann (1974-) (belgyógyász, endokrinológus)
Pályázati támogatás:GINOP-2.3.2-15-2016-00039
Internet cím:Szerző által megadott URL
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001-es BibID:BIBFORM099898
035-os BibID:(cikkazonosító)153 (WoS)000757045300001 (Scopus)85123003887
Első szerző:Madar László (klinikai laboratóriumi kutató)
Cím:Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia / Madar László, Juhász Lilla, Szűcs Zsuzsanna, Kerkovits Lóránt, Harangi Mariann, Balogh István
Megjegyzések:Familial hypercholesterolemia (FH) is one of the most common autosomal, dominantly inherited diseases affecting cholesterol metabolism, which, in the absence of treatment, leads to the development of cardiovascular complications. The disease is still underdiagnosed, even though an early diagnosis would be of great importance for the patient to receive proper treatment and to prevent further complications. No studies are available describing the genetic background of Hungarian FH patients. In this work, we present the clinical and molecular data of 44 unrelated individuals with suspected FH. Sequencing of five FH-causing genes (LDLR, APOB, PCSK9, LDLRAP1 and STAP1) has been performed by next-generation sequencing (NGS). In cases where a copy number variation (CNV) has been detected by NGS, confirmation by multiplex ligation-dependent probe amplification (MLPA) has also been performed. We identified 47 causal or potentially causal (including variants of uncertain significance) LDLR and APOB variants in 44 index patients. The most common variant in the APOB gene was the c.10580G>A p.(Arg3527Gln) missense alteration, this being in accordance with literature data. Several missense variants in the LDLR gene were detected in more than one index patient. LDLR variants in the Hungarian population largely overlap with variants detected in neighboring countries.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
familial hypercholesterolemia
next-generation sequencing
Megjelenés:Genes. - 13 : 1 (2022), p. 1-13. -
További szerzők:Juhász Lilla (1990-) (általános orvos) Szűcs Zsuzsanna Kerkovits Lóránt Harangi Mariann (1974-) (belgyógyász, endokrinológus) Balogh István (1972-) (molekuláris biológus, genetikus)
Pályázati támogatás:Briging Fund
Internet cím:Szerző által megadott URL
Intézményi repozitóriumban (DEA) tárolt változat
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