Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

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• 作者：Mehmet Karaca ; R?za K?ksal ?zgül ; ?zlem ünal…
• 关键词：BD ; Biotinidase deficiency ; BTD ; Gene coding for BTD ; Newborn screening ; Turkish population
• 刊名：European Journal of Pediatrics
• 出版年：2015
• 出版时间：August 2015
• 年：2015
• 卷：174
• 期：8
• 页码：1077-1084
• 全文大小：207 KB
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  3.Baumgartner ER, Suormala T (2000) Biotin responsive multiple carboxylase deficiency. In: Fernandes J, Saudubray JM, Van den Berghe G (eds) Inborn metabolic diseases: diagnosis and treatment, 3rd edn. Springer, New York, p 276View Article
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  5.Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B (2008) Profound biotinidase deficiency in a child with predominantly spinal cord disease. J Child Neurol 23:1043-048. doi:10.-177/-883073808318062-/span> PubMed View Article
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  13.Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B (2014) Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. Mol Genet Metab 112(3):242-46. doi:10.-016/?j.?ymgme.-014.-4.-02 PubMed View Article
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• 作者单位：Mehmet Karaca (1) (2)
  R?za K?ksal ?zgül (2) (3)
  ?zlem ünal (2)
  Didem Yücel-Y?lmaz (2)
  Mustafa K?l?? (2)
  Burcu Hi?mi (2)
  Ay?egül Tokatl? (2)
  Turgay Co?kun (2)
  Ali Dursun (2)
  Hatice Serap Sivri (2)
  
  1. Faculty of Science and Arts, Department of Biology, Aksaray University, Aksaray, Turkey
  2. Faculty of Medicine, Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara, Turkey
  3. Institute of Child Health, Hacettepe University, Ankara, Turkey
  
• 刊物主题：Pediatrics;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1076

文摘

The incidence of biotinidase deficiency in Turkey is currently one of the highest in the world. To expand upon the information about the biotinidase gene (BTD) variations in Turkish patients, we conducted a mutation screening in a large series (n--10) of probands with biotinidase deficiency, using denaturing high-performance liquid chromatography and direct DNA sequencing. The putative effects of novel mutations were predicted by computational program. Twenty-six mutations, including six novels (p.C143F, p.T244I, c.1212-1222del11, c.1320delG, p.V457L, p.G480R) were identified. Nine of the patients were symptomatic at the initial clinical assessment with presentations of seizures, encephalopathy, and lactic acidemia. The most common mutation in this group of symptomatic patients was c.98-104 del7ins3. Among the screened patients, 72 have partial and 134 have profound biotinidase deficiency (BD) of which 106 are homozygous for BTD mutations. The common mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3?% of all the mutant alleles in the Turkish population. Conclusion: The identification of common mutations and hot spot regions of the BTD gene in Turkish patients is important for mutation screening in the Turkish population and helps to ascertain carriers, may have impact on genetic counseling and implementing prevention programs. What is Known -The screened group is one of the largest series (n--10) of BD probands in childhood and provides reliable information about the BTD gene mutation spectrum in the Turkish population. What is New -This study adds six novel mutations, their phenotypic presentations and putative effects to the literature. -Seventeen of the detected mutant alleles caused early symptoms.