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

European Journal of Pediatrics
Mehmet KaracaHatice Serap Sivri

Abstract

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 = 210) 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. The identification of common mutations and hot spot regions of the BTD gene in Turkish patients is important for mutation screening in the...Continue Reading

References

Mar 20, 1998·The Journal of Pediatrics·B WolfJ Hymes
Apr 8, 1998·Mammalian Genome : Official Journal of the International Mammalian Genome Society·H C KnightB Wolf
May 9, 2000·Journal of Inherited Metabolic Disease·R J PomponioB Wolf
Apr 21, 2001·European Journal of Human Genetics : EJHG·A MühlS Stöckler-Ipsiroglu
Oct 3, 2002·Molecular Genetics and Metabolism·B WolfJ Sykut-Cegielska
Jan 7, 2004·Journal of Inherited Metabolic Disease·A LászlóB Wolf
Apr 3, 2004·Molecular Genetics and Metabolism·Christine M StanleyBarry Wolf
Sep 1, 2005·Human Mutation·Yoichi SuzukiYoichi Matsubara
Mar 27, 2007·The Journal of Pediatrics·Hatice Serap Kalkanoğlu SivriBarry Wolf
Jul 17, 2007·Molecular Genetics and Metabolism·Kirit PindoliaBarry Wolf
Jul 23, 2008·Journal of Child Neurology·Aziza K ChedrawiBarry Wolf
Feb 5, 2010·Molecular Genetics and Metabolism·Barry Wolf
Mar 13, 2010·Journal of Inherited Metabolic Disease·Annika OhlssonUlrika von Döbeln
Jun 12, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Tina M CowanUNKNOWN Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
Jun 18, 2010·Human Mutation·Kirit PindoliaBarry Wolf
Jun 24, 2011·Molecular Genetics and Metabolism·Barry Wolf
Mar 2, 2012·European Journal of Human Genetics : EJHG·Sébastien KüryBarry Wolf
Apr 21, 2012·Advances in Nutrition·Janos Zempleni, Toshinobu Kuroishi
Apr 4, 2013·G3 : Genes - Genomes - Genetics·Melinda ProcterRong Mao
Apr 30, 2013·Handbook of Clinical Neurology·Sara WinchesterMohamad A Mikati

❮ Previous
Next ❯

Citations

Apr 25, 2015·Ageing Research Reviews·Hao DengJoseph Jankovic
Jun 23, 2016·European Journal of Human Genetics : EJHG·Rachel C WiltinkMonique Williams
Jul 12, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ebru CandaMahmut Coker
Jan 26, 2020·American Journal of Medical Genetics. Part a·Yılmaz YıldızAyşegül Tokatlı
Jan 25, 2020·Journal of Personalized Medicine·Laith N Al-EitanHazem Haddad

❮ Previous
Next ❯

Related Concepts

Related Feeds

Bipolar Disorder

Bipolar disorder is characterized by manic and/or depressive episodes and associated with uncommon shifts in mood, activity levels, and energy. Discover the latest research this illness here.