Moderate phenotypic expression of familial hypercholesterolemia in Tunisia

Jelassi, Awatef; Slimani, Afef; Jguirim, Imen; Najah, Mohamed; Abid, A.; Boughamoura, Lamia; Mzid, Jawhar; Fkih, Moncef; Maatouk, Fethi; Rouis, Mustapha; Varret, Mathilde; Slimane, Mohamed Naceur

doi:10.1016/j.cca.2010.02.008

Cited by 18 publications

(17 citation statements)

References 24 publications

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“…compared with 17 years old in Japan (26) and 21 years old in Lebanon [29]. The mean total cholesterol level for homozygotes reported was 17.52±3.12 mmol/L [24], similar to those reported in other populations.…”

Section: Clinical and Biological Aspects Of Adh In Tunisia And Cascadsupporting

confidence: 71%

“…This type of diet has been shown to have long-term beneficial therapeutic effects by reducing the incidence of recurrent cardiovascular events. To conclude, 15 years after the first study in 1993 [11] similar characteristics of a mild phenotype of ADH in Tunisia was reported, particularly for heterozygous patients [24]. Thus, it appears clearly that despite the change in the diet habit to a more western diet, the Tunisian population still has the same mild clinical expression of ADH.…”

Section: Clinical and Biological Aspects Of Adh In Tunisia And Cascadmentioning

confidence: 74%

“…They estimated a high frequency of this disease for heterozygous (about 1/165). Beside they noted an attenuated phenotypic expression of ADH [11,24].…”

Section: Clinical and Biological Aspects Of Adh In Tunisia And Cascadmentioning

confidence: 99%

“…The mutation p.Ser493ArgfsX44 in exon 10 appears to be the most frequent mutation. [11,24,30,63,64].…”

Section: Molecular Defaults That Cause Adh In Tunisiamentioning

confidence: 99%

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Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population

Jelassi¹,

Najah²,

Slimani³

et al. 2013

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Abstract:Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic lowdensity lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol is necessary for this population.

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Section: Clinical and Biological Aspects Of Adh In Tunisia And Cascadsupporting

confidence: 71%

Section: Clinical and Biological Aspects Of Adh In Tunisia And Cascadmentioning

confidence: 74%

“…They estimated a high frequency of this disease for heterozygous (about 1/165). Beside they noted an attenuated phenotypic expression of ADH [11,24].…”

Section: Clinical and Biological Aspects Of Adh In Tunisia And Cascadmentioning

confidence: 99%

“…The mutation p.Ser493ArgfsX44 in exon 10 appears to be the most frequent mutation. [11,24,30,63,64].…”

Section: Molecular Defaults That Cause Adh In Tunisiamentioning

confidence: 99%

See 2 more Smart Citations

Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population

Jelassi¹,

Najah²,

Slimani³

et al. 2013

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“…9 We noted that for combined heterozygote (N ¼ 8) mean MoM of total cholesterol were similar to heterozygote Tunisian FH patients (N ¼ 42) (1.5 + 0.3). Concerning LDL-C level, the mean MoM for combined heterozygote (1.9 + 0.5) was slightly higher than that for heterozygote FH patients (1.8 + 0.4).…”

Section: Resultsmentioning

confidence: 52%

Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia

et al. 2010

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Autosomal dominant hypercholesterolaemia (ADH) is due to defects in the LDL receptor gene (LDLR), in the apolipoprotein B-100 gene (APOB) or in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9). The aim of this study was to identify and to characterize mutations at the origin of ADH in two Tunisian families. We found three genomic variations: (1) c.1845 þ 1G . A, a splice site mutation in the LDLR gene and (2) two variations in the PCSK9 gene ( p.Phe515Leu and p.Gly670Glu) that were both reported to be associated with high LDL-C levels. These results enlarge the spectrum of ADH-causative LDLR and PCSK9 variations in Tunisia. Our observations indicate that missense variations in the PCSK9 gene do not influence the clinical phenotype of ADH patients carrying a mutation in the LDLR gene.

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The Arabic allele: A single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia

Shawar¹,

Al-Drees²,

Ramadan³

et al. 2012

Atherosclerosis

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Moderate phenotypic expression of familial hypercholesterolemia in Tunisia

Cited by 18 publications

References 24 publications

Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population

Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population

Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia

The Arabic allele: A single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia

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