Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

GAGs MPS I biomarkers newborn screening postanalytical interpretation second-tier testing

Journal

International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400

Informations de publication

Date de publication:
03 2020
Historique:
received: 07 01 2020
accepted: 05 02 2020
entrez: 19 10 2020
pubmed: 20 10 2020
medline: 20 10 2020
Statut: epublish

Résumé

Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substrates for α-l-iduronidase (IDUA). These GAGs are elevated in patients with MPS I and have been shown to be promising biomarkers for both primary and second-tier testing. Since February 2016, we have measured DS and HS in 1213 specimens submitted on infants at risk for MPS I based on newborn screening. Molecular correlation was available for 157 of the tested cases. Samples from infants with MPS I confirmed by

Identifiants

DOI: 10.3390/ijns6010010 PMID: 33073008 PMC: PMC7422968
pubmed: 33073008
doi: 10.3390/ijns6010010
pii: ijns6010010
pmc: PMC7422968
doi:
pii:

Types de publication

Journal Article

Langues

eng

Pagination

10

Informations de copyright

© 2020 by the authors.

Déclaration de conflit d'intérêts

Conflicts of InterestThe authors declare no conflict of interest.

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Auteurs

Dawn S Peck (DS)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Jean M Lacey (JM)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Amy L White (AL)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
ORCID: 0000-0001-8226-615X

Gisele Pino (G)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

April L Studinski (AL)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Rachel Fisher (R)

Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA; firachel@med.umich.edu (R.F.); ayeshaah@med.umich.edu (A.A.).

Ayesha Ahmad (A)

Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA; firachel@med.umich.edu (R.F.); ayeshaah@med.umich.edu (A.A.).

Linda Spencer (L)

Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI 48201, USA; lspencer@dmc.org.

Sarah Viall (S)

Rare Disease Institute, Children's National Health System, Washington, DC 20010, USA; sviall@childrensnational.org.

Natalie Shallow (N)

Division of Medical Genetics and Genomic Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA; natalie.shallow@vumc.org.

Amy Siemon (A)

Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA; amy.siemon@nationwidechildrens.org.

J Austin Hamm (JA)

Pediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA; jahamm@etch.com.

Brianna K Murray (BK)

Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA; brianna.murray@chkd.org (B.K.M.); kelly.jones@chkd.org (K.L.J.).

Kelly L Jones (KL)

Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA; brianna.murray@chkd.org (B.K.M.); kelly.jones@chkd.org (K.L.J.).
ORCID: 0000-0002-5097-9865

Dimitar Gavrilov (D)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Devin Oglesbee (D)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).
ORCID: 0000-0002-7147-5527

Kimiyo Raymond (K)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Dietrich Matern (D)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Piero Rinaldo (P)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Silvia Tortorelli (S)

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Classifications MeSH