The first case of the FRAXE form of inherited mental retardation in Croatia

Hečimović, Silva; Bago, Ružica; Mužinić, Dubravka; Begović, Davor; Pavelić, Krešimir

doi:10.1007/x00431-001-0876-6

Cited by 4 publications

(3 citation statements)

References 4 publications

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“…Since 1995 routine molecular diagnosis of the fragile X syndrome (FRAXA and FRAXE form) has been conducted in Croatia and 20 FRAXA and 1 FRAXE fragile X families have detected so far (18,19). The aim of this study was to screen for fragile X syndrome in mentally retarded children attending a special school to detect yet unrecognized cases and fragile X families and also to estimate the frequency of the FRAXA and FRAXE forms of fragile X syndrome in a population of mentally retarded children in Croatia.…”

Section: Discussionmentioning

confidence: 99%

“…Males with no ampli ed alleles and all females in whom only one normal allele was detected were tested further by Expand Long PCR with 7-deaza-dGTP in the dNTP mixture following nonradioactive hybridization and chemiluminescent detection (22). Using this protocol it has previously been shown that it is possible to analyse normal, premutated and fully mutated alleles in the FMR1 and FMR2 genes (18,19,22). Primers used to amplify the CGG repeat region at FRAXA and FRAXE loci have been published previously (9,15).…”

Section: Study Populationmentioning

confidence: 99%

“…Different fragile X screening programmes have been conducted to detect the cause of mental handicap and/or developmental delay in children. Since 1995 the authors have been routinely performing molecular diagnosis of the fragile X syndrome (FRAXA and FRAXE forms) in Croatia, and 20 FRAXA and 1 FRAXE fragile X families have been identi ed so far (18,19). The aim of this work was to detect yet unrecognized fragile X cases and to estimate the frequency of the FRAXA and FRAXE forms in a population of mentally retarded children attending a special school in Croatia.…”

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confidence: 99%

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Screening for fragile X syndrome: results from a school for mentally retarded children

et al. 2002

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Fragile X screening among mentally retarded children attending a special school should be highly encouraged to reveal the cause of mental retardation and to detect yet unrecognized fragile X individuals. The frequency of fragile X syndrome in a such population in Croatia was found to correlate with similar results from previous studies. However, since at the time of diagnosis all affected families had a second or even a third child born, earlier diagnosis should be considered to provide greater benefit to fragile X families.

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Section: Discussionmentioning

confidence: 99%

Section: Study Populationmentioning

confidence: 99%

mentioning

confidence: 99%

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Screening for fragile X syndrome: results from a school for mentally retarded children

et al. 2002

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Liver transplantation for non-hepatotoxic inborn errors of metabolism

Treem

2006

Curr Gastroenterol Rep

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Hepatic-based inborn errors of metabolism are targets for treatment with liver transplantation in children, in whom the metabolic defect causes irreversible damage to the liver. However, certain metabolic defects originate with enzyme deficiencies localized in the liver but then give rise to toxic intermediates that damage extrahepatic organs without any significant compromise of general liver function. Here, the rationale of using liver transplantation to replace an organ that is functioning normally except for a specific metabolic pathway raises difficult questions about indications for transplantation, timing, amount of replacement tissue needed to correct the defect, and whether heterozygote parents are suitable living donors for liver transplantation in their affected children. This review explores these questions and others, including the role of hepatocyte transplantation, in this select group of disorders. Until the promise of specific gene or enzyme replacement therapy is realized, liver and hepatocyte transplantation offers the best chance of achieving metabolic control in these challenging patients.

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Hepatic lentiviral gene transfer prevents the long-term onset of hepatic tumours of glycogen storage disease type 1a in mice

Clar

Mutel

Gri

et al. 2015

Human Molecular Genetics

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Glycogen storage disease type 1a (GSD1a) is a rare disease due to the deficiency in the glucose-6-phosphatase (G6Pase) catalytic subunit (encoded by G6pc), which is essential for endogenous glucose production. Despite strict diet control to maintain blood glucose, patients with GSD1a develop hepatomegaly, steatosis and then hepatocellular adenomas (HCA), which can undergo malignant transformation. Recently, gene therapy has attracted attention as a potential treatment for GSD1a. In order to maintain long-term transgene expression, we developed an HIV-based vector, which allowed us to specifically express the human G6PC cDNA in the liver. We analysed the efficiency of this lentiviral vector in the prevention of the development of the hepatic disease in an original GSD1a mouse model, which exhibits G6Pase deficiency exclusively in the liver (L-G6pc(-/-) mice). Recombinant lentivirus were injected in B6.G6pc(ex3lox/ex3lox). SA(creERT2/w) neonates and G6pc deletion was induced by tamoxifen treatment at weaning. Magnetic resonance imaging was then performed to follow up the development of hepatic tumours. Lentiviral gene therapy restored glucose-6 phosphatase activity sufficient to correct fasting hypoglycaemia during 9 months. Moreover, lentivirus-treated L-G6pc(-/-) mice presented normal hepatic triglyceride levels, whereas untreated mice developed steatosis. Glycogen stores were also decreased although liver weight remained high. Interestingly, lentivirus-treated L-G6pc(-/-) mice were protected against the development of hepatic tumours after 9 months of gene therapy while most of untreated L-G6pc(-/-) mice developed millimetric HCA. Thus the treatment of newborns by recombinant lentivirus appears as an attractive approach to protect the liver from the development of steatosis and hepatic tumours associated to GSD1a pathology.

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The first case of the FRAXE form of inherited mental retardation in Croatia

Cited by 4 publications

References 4 publications

Screening for fragile X syndrome: results from a school for mentally retarded children

Screening for fragile X syndrome: results from a school for mentally retarded children

Liver transplantation for non-hepatotoxic inborn errors of metabolism

Hepatic lentiviral gene transfer prevents the long-term onset of hepatic tumours of glycogen storage disease type 1a in mice

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