2013
DOI: 10.1016/j.gene.2013.08.049
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Familial hypobetalipoproteinemia: Analysis of three Spanish cases with two new mutations in the APOB gene

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Cited by 10 publications
(9 citation statements)
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“…Mutations in the genes investigated also contribute to monogenic dyslipidaemias. Deleterious mutations in LDLR are the most common cause of FH [8,45,46]; loss of function variants in LDLRAP1 have been documented to cause high LDL-cholesterol levels with a recessive form of inheritance (38); variants in APOB have been known to cause both low and high LDLcholesterol levels [16,[47][48][49]; and loss of function variants that cause low LDL-cholesterol have been identified in PCSK9 [50][51][52]. In this study, two LDLRAP1 variants were associated with low LDL-cholesterol levels.…”
Section: Discussionmentioning
confidence: 60%
“…Mutations in the genes investigated also contribute to monogenic dyslipidaemias. Deleterious mutations in LDLR are the most common cause of FH [8,45,46]; loss of function variants in LDLRAP1 have been documented to cause high LDL-cholesterol levels with a recessive form of inheritance (38); variants in APOB have been known to cause both low and high LDLcholesterol levels [16,[47][48][49]; and loss of function variants that cause low LDL-cholesterol have been identified in PCSK9 [50][51][52]. In this study, two LDLRAP1 variants were associated with low LDL-cholesterol levels.…”
Section: Discussionmentioning
confidence: 60%
“…The presence of this variant was confirmed in our laboratory. This variant is classified as pathogenic according to the ACMG guidelines and was previously described in a heterozygous FHBL patient ( Martín-Morales et al, 2013 ). The cascade screening performed on the index daughters revealed that one of them was carrying the APOB gene variant ( Figure 5 ).…”
Section: Resultsmentioning
confidence: 99%
“…Nonsynonymous, nontruncating APOB mutations have also been reported [5, 6]. It was reported that a nontruncated mutant protein can result in impaired secretion compared with the normal secretion of the mutant truncated proteins [7]. All of the previously reported nontruncating mutations are observed in residues 292–593.…”
Section: Discussionmentioning
confidence: 99%
“…Therefore, it is more likely that the disease causing mutation in the father and son is this exon 26 variant which does not affect apoB-48 but does cause premature truncation of the apoB-100 at residue 3778. In previous reports of heterozygotes for point mutations located in the exon 26 of the APOB gene it was found that the clinical manifestations of FHBL are dependent on the size of the resultant truncated apoB [7]. This variant likely accounts for the low LDL-cholesterol, total cholesterol, and apoB-100 observed in the father and son.…”
Section: Discussionmentioning
confidence: 99%