Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)
Tài liệu tham khảo
Barry Wolf, 1981, Multiple Carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment, Pediatrics, 68, 113, 10.1542/peds.68.1.113
Wolf, 2012, Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”, Genet. Med., 14, 565, 10.1038/gim.2011.6
Canada, 2011, 49
NSO: Newborn Screening Public Annual Report. 2012: p. 26.
Wolf, 1983, Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency, Clin. Chim. Acta, 131, 273, 10.1016/0009-8981(83)90096-7
Barry, 1990, Biotinidase, Methods Enzymol., 184, 103, 10.1016/0076-6879(90)84265-I
Wolf, 1991, Worldwide survey of neonatal screening for biotinidase deficiency, J. Inherit. Metab. Dis., 14, 923, 10.1007/BF01800475
Pomponio, 2000, Novel mutations cause biotinidase deficiency in Turkish children, J. Inherit. Metab. Dis., 23, 120, 10.1023/A:1005609614443
Jeanne Hymes, C.M.S., And Barry Wolf, Mutations in BTD causing biotinidase deficiency. Hum. Mutat., 2001. 18: p. 375–381.
Pindolia, 2010, Analysis of mutations causing biotinidase deficiency, Hum. Mutat., 31, 983, 10.1002/humu.21303
Procter, 2013
Landau, 2014, Genomics in newborn screening, J. Pediatr., 164, 14, 10.1016/j.jpeds.2013.07.028
Katie, 1998, Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene, Hum. Genet., 102, 571, 10.1007/s004390050742
Li, 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, 242, 10.1016/j.ymgme.2014.04.002
Pomponio, 1997, Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis, Pediatr. Res., 42, 840, 10.1203/00006450-199712000-00020
Wolf, 2010, Clinical issues and frequent questions about biotinidase deficiency, Mol. Genet. Metab., 100, 6, 10.1016/j.ymgme.2010.01.003
Zempleni, 1999, Biotin biochemistry and human requirements, J. Nutr. Biochem., 10, 128, 10.1016/S0955-2863(98)00095-3
Wolf, 2015, Why screen newborns for profound and partial biotinidase deficiency?, Mol. Genet. Metab., 114, 382, 10.1016/j.ymgme.2015.01.003
Jay, 2015, Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25years, Genet. Med., 17, 205, 10.1038/gim.2014.104
Norrgard, 1999, Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children, Pediatr. Res., 46, 20, 10.1203/00006450-199907000-00004
Neto, 2004, Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations, Braz. J. Med. Biol. Res., 37, 295, 10.1590/S0100-879X2004000300001
Sarafoglou, 2009, High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota, J. Inherit. Metab. Dis., 32, S169, 10.1007/s10545-009-1135-7
Wolf, B., et al., Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Hum. Mutat., 2005. 25(4): p. 413–413.
Wolf, 2002, Seventeen novel mutations that cause profound biotinidase deficiency, Mol. Genet. Metab., 77, 108, 10.1016/S1096-7192(02)00149-X
Chedrawi, 2008, Profound biotinidase deficiency in a child with predominantly spinal cord disease, J. Child Neurol., 23, 1043, 10.1177/0883073808318062
Thodi, 2011, Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening, J. Hum. Genet., 56, 861, 10.1038/jhg.2011.119
1999
Online Mendelian Inheritance in Man, OMIM (TM), 1999
2013
Human Gene Mutation Database Cardiff 2015.2. Stenson et al., 2014, The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine, Hum. Genet., 133, 1, 10.1007/s00439-013-1358-4
1000 Genomes. McVean et al., 2012, An integrated map of genetic variation from 1092 human genomes, Nature, 491, 56, 10.1038/nature11632
Exome Variant Server, 2015
ClinVar, 2015
2015
PolyPhen 2, 2010, A method and server for predicting damaging missense mutations, Nat. Methods, 7, 248, 10.1038/nmeth0410-248
SIFT. Kumar P, Henikoff S, Ng PC, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. 2009. Nat. Protoc., 4(7):1073–81. World Wide Web URL: http://sift.jcvi.org/
Mutation Taster [30], 2014, MutationTaster2: mutation prediction for the deep-sequencing age, Nat. Methods, 11, 361, 10.1038/nmeth.2890