The Tunisian population history through the Crigler–Najjar type I syndrome

Petit, François; Bézieau, Stéphane; Gajdos, Vincent; Parisot, Frédéric; Scoul, Catherine; Capel, Liliane; Stozinic, Volodia; Khrouf, N.; Mrad, Ridha; Koshy, Abraham; Mollet-Boudjemline, A.; Francoual, J; Labrune, Philippe

doi:10.1038/sj.ejhg.5201989

Cited by 14 publications

(19 citation statements)

References 22 publications

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“…The child was then discharged with at-home phototherapy and regular followup. Molecular study showed that the child was homozygous for the c.1070A > G mutation within exon 3 of the UGT1A1 gene, a previously reported mutation in CN-I patients (Petit et al 2008) thus confirming the diagnosis of CN-I syndrome.…”

Section: Case Reportsupporting

confidence: 69%

Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome

et al. 2011

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Crigler-Najjar syndrome type I (CN-I, MIM #218800) is a rare and severe autosomal disorder. It is caused by deficiency of the liver enzyme responsible for bilirubin elimination, the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1; EC 2.4.1.17). Biologically, the disease manifests itself with severe and persistent unconjugated hyperbilirubinemia. Kernicterus is a well-known complication of severe unconjugated hyperbilirubinemia in infants and young children, especially in patients with CN-I.Few articles have shown the efficiency of plasmapheresis for extreme hyperbilirubinemia.In this report, we describe the efficiency of plasmapheresis for a rapid control of acute and severe unconjugated hyperbilirubinemia in a 6-year-old CN-I patient who had previously developed kernicterus in the neonatal period. In spite of intensification of phototherapy, the patient developed severe hyperbilirubinemia (up to 830 mmol/l, with bilirubin/albumin ratio at 1.2). With two plasmapheresis procedures, bilirubin serum concentration decreased to 420 mmol/ and bilirubin/albumin ratio to 0.55. Following the acute episode of very severe unconjugated hyperbilirubinemia, the child recovered and neurological examination was unchanged, thus suggesting that plasmapheresis possibly prevented further worsening of kernicterus.

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Section: Case Reportsupporting

confidence: 69%

Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome

et al. 2011

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“…Founder mutations observed in Tunisia were also reported in populations from the Middle East such as the splice site mutation in the CA II gene responsible for carbonic anhydrase II deficiency in the Arabic peninsula [47] and the p.Q357R molecular defect in the UGT1A1 gene of the Crigler-Najjar type I syndrome in the Kuwaiti population [48]. In other cases, founder mutations are dispersed around the Mediterranean basin as illustrated by the c.744delA mutation in the TTPA gene of ataxia with isolated vitamin E deficiency [49] and the splice site defects in megaloblastic anemia 1 [50] and triple-A syndrome [51].…”

Section: Resultsmentioning

confidence: 99%

“…These mutations likely arose in the Middle East and were introduced in Tunisia following Banu Hilal invasions that settled in the Maghreb in the eleventh century. Several other mutations like those responsible for carbonic anhydrase and Crigler Najjar disease were introduced similarly [47,48]. The extent of geographic repartition of a founder mutation could give insights into its history and age.…”

Section: Discussionmentioning

confidence: 99%

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

Romdhane

Kéfi

Azaiez

et al. 2012

Orphanet J Rare Dis

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BackgroundTunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian population shows a relatively high rate of consanguinity and endogamy that favor expression of recessive genetic disorders at relatively high rates. Many factors could contribute to the recurrence of monogenic morbid trait expression. Among them, founder mutations that arise in one ancestral individual and diffuse through generations in isolated communities.MethodWe report here on founder mutations in the Tunisian population by a systematic review of all available data from PubMed, other sources of the scientific literature as well as unpublished data from our research laboratory.ResultsWe identified two different classes of founder mutations. The first includes founder mutations so far reported only among Tunisians that are responsible for 30 genetic diseases. The second group represents founder haplotypes described in 51 inherited conditions that occur among Tunisians and are also shared with other North African and Middle Eastern countries. Several heavily disabilitating diseases are caused by recessive founder mutations. They include, among others, neuromuscular diseases such as congenital muscular dystrophy and spastic paraglegia and also severe genodermatoses such as dystrophic epidermolysis bullosa and xeroderma pigmentosa.ConclusionThis report provides informations on founder mutations for 73 genetic diseases either specific to Tunisians or shared by other populations. Taking into account the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost effective tool for molecular diagnosis. Indeed, our report should help designing appropriate measures for carrier screening, better evaluation of diseases burden and setting up of preventive measures at the regional level.

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“…Crigler Najjar syndrome type I and Xeroderma pigmentosum (XP) group C are caused by the founder mutations p.Q357R and p.V548AfsX25, respectively [19][20][21] , that are shared with other Mediterranean populations. In other cases, some allelic heterogeneity is responsible for the expression of the morbid phenotype, with a predominant founder mutation as the major cause of the disease along with rare familial private molecular lesions.…”

Section: Founder Effect Consanguinity and Genetic Disease Frequencymentioning

confidence: 99%

Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

et al. 2014

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Located at the cross-road between Europe and Africa, Tunisia is a North African country of 11 million inhabitants. Throughout its history, it has been invaded by different ethnic groups. These historical events, and consanguinity, have impacted on the spectrum and frequency of genetic diseases in Tunisia. Investigations of Tunisian families have significantly contributed to elucidation of the genetic bases of rare disorders, providing an invaluable resource of cases due to particular familial structures (large family size, consanguinity and share of common ancestors). In the present study, we report on and review different aspects of consanguinity in the Tunisian population as a case study, representing several features common to neighboring or historically related countries in North Africa and the Middle East. Despite the educational, demographic and behavioral changes that have taken place during the last four decades, familial and geographical endogamy still exist at high frequencies, especially in rural areas. The health implications of consanguinity in Tunisian families include an increased risk of the expression of autosomal recessive diseases and particular phenotypic expressions. With new sequencing technologies, the investigation of consanguineous populations provides a unique opportunity to better evaluate the impact of consanguinity on the genome dynamic and on health, in addition to a better understanding of the genetic bases of diseases.

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The Tunisian population history through the Crigler–Najjar type I syndrome

Cited by 14 publications

References 22 publications

Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome

Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

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