The First Report of GAC<inline-formula id="idm140412567936304"><math id="mml140412567936304"><mstyle displaystyle="true"><mrow><mo>></mo></mrow></mstyle></math></inline-formula>AAC Mutation in Familial Hypercholesterolemia in Khuzestan
| Author | Marzieh Nikkhooy | en |
| Author | Ali Mohammad Foroughmand | en |
| Author | Hamid Galehdari | en |
| Author | Saeed Yazdankhah | en |
| Orcid | Hamid Galehdari [0000-0001-6281-4809] | en |
| Issued Date | 2018-08-31 | en |
| Abstract | Introduction: Familial hypercholesterolemia (FH) is a disorder with the autosomal dominant inheritance pattern caused mainly by mutations in LDLR, APOB-100, or PCSK9 genes. In most cases, the genetic cause of FH is a mutation in the LDLR gene, which leads to a rise in blood LDL cholesterol, premature coronary heart diseases (CHD), and premature atherosclerosis. Case Presentation: In this study, we examined a probable mutation in the exon of the LDLR gene in a case suffering from familial hypercholesterolemia in Khuzestan province. In this survey, a family suffering from FH was examined through the examination of the exons of the LDLR gene through the PCR-sequencing method. The observed mutation in the LDLR gen was a missense mutation GAC>AAC at position 492 in exon 10 of LDLR. GAC>AAC causes the conversion of the aspartic acid to asparagine. Conclusions: LDLR gene mutations are considered as an important factor causing FH. Therefore, our results encourage future research to investigate more mutations as susceptible variants that might be involved in FH. | en |
| DOI | https://doi.org/10.5812/zjrms.6642 | en |
| Keyword | Familial Hypercholesterolemia | en |
| Keyword | LDLR | en |
| Keyword | Sequencing | en |
| Publisher | Brieflands | en |
| Title | The First Report of GAC<inline-formula id="idm140412567936304"><math id="mml140412567936304"><mstyle displaystyle="true"><mrow><mo>></mo></mrow></mstyle></math></inline-formula>AAC Mutation in Familial Hypercholesterolemia in Khuzestan | en |
| Type | Case Report | en |
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