Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation

European Journal of Human Genetics : EJHG
A MühlS Stöckler-Ipsiroglu

Abstract

This study characterises the spectrum of biotinidase mutations in 21 patients (17 families) with profound biotinidase deficiency (BD) and 13 unrelated patients with partial BD using a denaturing gradient gel electrophoretic mutation screening and selective sequencing approach. In 29 from 30 unrelated families we found biallelic mutations including four common mutations, D444H (frequency 23.3%), G98:d7i3(20.0%), Q456H(20.0%), T532M (15.0%) and nine rare mutations (V62M, R157H, A171T+D444H, C423W, D543H, L279W, N172S, V109G, 12236G-A) with frequencies less than 5.0%. Only three profound BD patients with G98:d7i3/G98:d7i3 and Q456H/Q456H genotypes and residual biotinidase activities of 0.0%, and 0.9% of normal activity developed clinical symptoms before biotin supplementation at 8 weeks of age. All other patients remained asymptomatic within the first months of life or even longer without treatment. Two patients homozygous for the frameshift mutation G98:d7i3 had no measurable residual enzyme activity. Twelve patients with partial BD had the D444H mutation in at least one allele. We conclude that, based on mutation analysis and biochemical examinations of the enzyme, it is currently not clearly predictable whether an untreated pat...Continue Reading

Citations

Mar 2, 2012·European Journal of Human Genetics : EJHG·Sébastien KüryBarry Wolf
Jan 14, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Barry Wolf
Oct 13, 2006·The Journal of Alternative and Complementary Medicine : Research on Paradigm, Practice, and Policy·Bin WuK M Hui
Jul 17, 2007·Molecular Genetics and Metabolism·Kirit PindoliaBarry Wolf
Dec 23, 2006·Molecular Genetics and Metabolism·Ilona MilánkovicsAgnes Schuler
Nov 19, 2015·European Journal of Human Genetics : EJHG·Sébastien KüryBarry Wolf
Mar 11, 2015·European Journal of Pediatrics·Mehmet KaracaHatice Serap Sivri
Jun 16, 2012·Molecular Genetics and Metabolism·Tina M CowanIris Schrijver
Sep 4, 2009·Expert Review of Endocrinology & Metabolism·Janos ZempleniSubhashinee Sk Wijeratne
Oct 23, 2001·Human Mutation·J HymesB Wolf
Jun 18, 2010·Human Mutation·Kirit PindoliaBarry Wolf
Jun 18, 2021·Frontiers in Pediatrics·Alice MaguoloAndrea Bordugo

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