Characterization of the first PCSK9 gain of function homozygote
Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative PCSK9 GOF missense variants (p.[(Ala62Asp)]; [(Pro467Ala)]), and no mutation i...
| Autores: | , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2015 |
| País: | España |
| Institución: | Universidad del País Vasco |
| Repositorio: | Addi. Archivo Digital para la Docencia y la Investigación |
| OAI Identifier: | oai:addi.ehu.eus:10810/65477 |
| Acceso en línea: | http://hdl.handle.net/10810/65477 |
| Access Level: | acceso abierto |
| Palabra clave: | PCSK9 lymphocytes FH |
| Sumario: | Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative PCSK9 GOF missense variants (p.[(Ala62Asp)]; [(Pro467Ala)]), and no mutation in the low-density lipoprotein (LDL) receptor (LDLR) or in apolipoprotein B100 (APOB) genes. We fully characterize here the first compound heterozygote FH patient with 2 PCSK9 GOF variants. The experiments conducted on the proband’s lymphocytes clearly suggest that this patient should respond particularly well to a treatment combining a statin and a PCSK9 inhibitor. |
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