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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

✍ Scribed by Abifadel, Marianne; Varret, Mathilde; Rabès, Jean-Pierre; Allard, Delphine; Ouguerram, Khadija; Devillers, Martine; Cruaud, Corinne; Benjannet, Suzanne; Wickham, Louise; Erlich, Danièle

Book ID
109918498
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
133 KB
Volume
34
Category
Article
ISSN
1061-4036

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✦ Synopsis

Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH. PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.

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Novel mutations of the PCSK9 gene cause
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✍ Delphine Allard; Sabine Amsellem; Marianne Abifadel; Mélanie Trillard; Martine D 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB

Autosomal dominant hypercholesterolemia (ADH) is a frequent (1/500) monogenic inherited disorder characterized by isolated elevation of LDL leading to premature cardiovascular disease. ADH is known to result from mutations at two main loci: LDLR (encoding the low density lipoprotein receptor), and A

Erratum: Novel mutations of the PCSK9 ge
Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
✍ Delphine Allard; Sabine Amsellem; Marianne Abifadel; Mélanie Trillard; Martine D 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB

The original article to which this Erratum refers was published in Human Mutation 26: 497 (2005) In Table 2, the first footnote that reads "\*Associated with p.D347Y on the same allele." should read "\*Associated with p.D347Y." as it is not known if the two mutations are in cis or in trans.