Gaucher disease in Tunisia: High frequency of the most common mutations

Cherif, Wafa; Turkia, Hadhami Ben; Rhouma, Faten Ben; Riahi, I.; Chemli, J.; Kéfi, Rym; Messai, Habib; Amaral, Olga; Sá-Miranda, Clara; Caillaud, Catherine; Tebib, Néji; Dridi, M. F. Ben; Abdelhak, Sonia

doi:10.1016/j.bcmd.2009.05.004

Cited by 8 publications

(11 citation statements)

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“…In their study, 2 patients were homozygous for the N370S mutation and 1 patient developed PD at the age of 52 years. So far, this mutation has been found in 44% of pediatric Tunisian patients with GD [84]. Unlike most of the autosomal recessive genetic diseases in Tunisia, of which the majority of patients are born to consanguineous marriages and which are homozygous for deleterious alleles, the N370S mutation is encountered in a heterozygous state in combination with other mutated alleles [89].…”

Section: Epidemiology Of Gd In General and In Tunisian Populationsmentioning

confidence: 99%

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Gaucher Disease: Clinical, Biological and Therapeutic Aspects

Dandana¹,

Khelifa²,

Chahed³

et al. 2015

Pathobiology

114

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We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme β-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside. Clinical signs and symptoms include neurological dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia and thrombocytopenia. Enzyme replacement therapy with recombinant GBA is the mainstay of treatment for GD, which became the first successfully managed lipid storage disease. Future treatments may include oral enzyme replacement and/or gene therapy interventions.

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Section: Epidemiology Of Gd In General and In Tunisian Populationsmentioning

confidence: 99%

“…Fourteen among 25 families (56%) were consanguineous. Based on the absence of neurological involvement, all of the patients were clinically classified as GD type 1, except for 2 patients who were diagnosed as types 2 and 3 [84]. …”

Section: Epidemiology Of Gd In General and In Tunisian Populationsmentioning

confidence: 99%

Gaucher Disease: Clinical, Biological and Therapeutic Aspects

Dandana¹,

Khelifa²,

Chahed³

et al. 2015

Pathobiology

114

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“…More than 200 mutations were identified along GBA gene http://www.hgmd.org. In previous studies, investigation of GD showed that p.N370S, p.L444P and Rec Nci I mutations were relatively frequent in Tunisian patients [4,5]. In the present study, we report three Tunisian adult GD patients including one patient with Parkinson disease in whom the disease was incidentally found following bone marrow examination during check up for thrombocytopenia with splenomegaly.…”

Section: Resultsmentioning

confidence: 51%

“…Homozygosity for this mutation appears common among GD type I adult patients [8]. So far, this mutation was found in 44% of paediatric Tunisian patients with GD [5]. Unlike most of the autosomal recessive genetic diseases in Tunisia for which the majority of the patients is born to consanguineous marriages and is homozygous for deleterious alleles, the p.N370S mutation is encountered at heterozygous state in combination with other mutated alleles [5].…”

Section: Discussionmentioning

confidence: 99%

Adult gaucher disease in southern Tunisia: report of three cases

et al. 2012

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BackgroundGaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease.FindingsMolecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state.ConclusionThe p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.

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“…This corresponds to a similarly high frequency in Tunisian Arab-Berbers of which 30% of patients with PD harbor Lrrk2 p.G2019S [14]. Moreover, the study of GBA mutations has identified p.N370S as the most frequent mutation in Gaucher's patients from Tunisia [3, 4]. Considering this observed genetic distribution and a common ancestral founder haplotype for LRRK2 p.G2019S [28], we hypothesized that patients with PD from Tunisia also may have the higher frequency of GBA mutations, performing complete gene sequencing on a series of familial affected probands previously screened for mutations in all known genetic forms of PD.…”

Section: Introductionmentioning

confidence: 99%