Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal recessive hypercholesterolemia

Autosomal recessive hypercholesterolemia (ARH) is caused by mutations of the LDLRAP1. The name is a bit misleading as we know today that the more genes of the lipid metabolism are altered and the more severe the mutations the more prominent the clinical picture.

Systematic

Hypercholesterolemia
Autosomal dominant hypercholesterolemia 1
Autosomal dominant hypercholesterolemia 2
Autosomal dominant hypercholesterolemia 3
Autosomal recessive hypercholesterolemia
LDLRAP1
Low density lipoprotein cholesterol level quantitative trait locus
Lp(a) hyperlipoproteinemia

References:

1.

Zuliani G et al. (1999) Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia.

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2.

Haddad L et al. (1999) Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.

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3.

Norman D et al. (1999) Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.

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4.

Ciccarese M et al. (2000) A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26.

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5.

Eden ER et al. (2001) Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families.

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6.

Garcia CK et al. (2001) Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.

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7.

Al-Kateb H et al. (2002) Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.

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8.

Canizales-Quinteros S et al. (2005) A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.

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9.

Jones C et al. (2007) Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.

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10.

Zuliani G et al. (1995) Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree.

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11.

Rallidis L et al. (1996) Aortic stenosis in homozygous familial hypercholesterolaemia.

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12.

Sun XM et al. (1997) Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.

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13.

Schmidt HH et al. (1998) Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia.

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14.

OMIM.ORG article

Omim 603813 [^]
Update: April 29, 2019