Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia

Magnolo, Lucia; Najah, Mohamed; Fancello, Tatiana; Leo, Enza Di; Pinotti, Enrico; Brini, Inès; Gueddiche, N.; Calandra, Sebastiano; Slimene, N.; Tarugi, Patrizia

doi:10.1016/j.gene.2012.09.117

Cited by 29 publications

(24 citation statements)

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“…The biochimical phenotype of family D strongly confirms the existence of a Tunisian specificity associated with monogenic dyslipidemias, since we recently showed a low level of plasma lipids in heterozygous for CMRD [36] and normal or moderate levels of CT and LDL-C in heterozygous familial hypercholestetolemia (FH) [37]. The lipid profile of proband’s brother (subject II.1 in Table 2) can be attributed either to the low content of fats in the mediterranean diet which characterize Tunisian population [38] or to the coexistence of other cholesterol-lowering gene(s) associated with hypobetalipoproteinemia in this family.…”

Section: Discussionmentioning

confidence: 58%

“…Five ABL patients have been reported in Tunisian population [10,36]. In this work we characterize two other unrelated patients affected by this metabolic disorder and we identify a novel mutation in MTTP gene leading to a non functional protein.…”

Section: Resultsmentioning

confidence: 99%

“…The (419insA) mutation was also associated with ABL in patients of European ancestry [13,26]. In Tunisian population, four mutations in MTTP gene (c.923 G > A, c.619-3 T > G, c.1236 + 2 T > G and c.2342 + 1 G > A) have been reported as cause of ABL in four single families [10,36]. In this study, the diagnosis of the mutation (c.923 G > A) in a new Tunisian family is suggestive of a high prevalence of the mutant allele in heterozygote state.…”

Section: Discussionmentioning

confidence: 99%

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Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

et al. 2013

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BackgroundAbetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investigated two unrelated Tunisian patients, born from consanguineous marriages, with severe deficiency of plasma low-density lipoprotein (LDL) and apo B.MethodsIntestinal biopsies were performed and The MTTP gene was amplified by Polymerase chain reaction then directly sequenced in patients presenting chronic diarrhea and retarded growth.ResultsFirst proband was homozygous for a novel nucleotide deletion (c. 2611delC) involving the exon 18 of MTTP gene predicted to cause a non functional protein of 898 amino acids (p.H871I fsX29). Second proband was homozygous for a nonsense mutation in exon 8 (c.923 G > A) predicted to cause a truncated protein of 307 amino acids (p.W308X), previously reported in ABL patients.ConclusionsWe discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/8134027928652779.

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Section: Discussionmentioning

confidence: 58%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

et al. 2013

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“…CRD is a rare recessive disorder that seems to be more frequent in highly inbred ethnic groups or in geographically isolated populations. This may be the case in the Tunisian population, which has a high rate of consanguineous marriages [4]. Mutations of the SAR1B gene were identified in 2003 as the specific molecular defect [5].…”

Section: Discussionmentioning

confidence: 99%

Chylomicron retention disease: A rare cause of chronic diarrhea

Ameur

Aloulou

Jlidi

et al. 2016

Archives de Pédiatrie

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“…These defective SAR1B proteins result in a failure to transport chylomicrons from ER to Golgi complex [6]. To date, about 20 mutations have been reported in roughly 50 patients [7][8][9][10]. SAR1B gene is also responsible for the secretion of very low density lipoproteins from hepatocytes.…”

Section: Discussionmentioning

confidence: 99%

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan

Kumar¹,

Nanjiani²,

Tahir³

et al. 2020

Cureus

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Chylomicron retention disease (CMRD), also known as Anderson's disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. CMRD classically manifests as steatorrhea, vomiting, failure to thrive or abdominal bloating shortly after birth or in childhood. Here, we report a rare case of a 50-day-old male infant who was, at first, overseen as a case of acute gastroenteritis with sepsis owing to the non-specific symptoms i.e. multiple episodes of loose stools with a low-grade fever and failure to thrive, and was managed accordingly. However, the symptoms did not resolve; moreover, the clinical condition deteriorated. Later, lipid profile, clinical presentation and pathological features led to a presumptive diagnosis of CMRD. Our patient showed significant improvement when treated with a trial of medium-and short-chain fatty acids. We conclude that, in resource-restricted countries, a therapeutic trial with the dietary changes is essential to not only prevent the devastating complication but also support the diagnosis.

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Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia

Cited by 29 publications

References 40 publications

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

Chylomicron retention disease: A rare cause of chronic diarrhea

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan

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