Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12-Reference-Cited by-同舟云学术

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12

Published:2018-05-10 Issue:7 Volume:39 Page:947-953
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

van Kuilenburg André B.P.¹^ORCID,Tarailo-Graovac Maja²³,Meijer Judith¹,Drogemoller Britt⁴,Vockley Jerry⁵⁶,Maurer Dirk⁷,Dobritzsch Doreen⁷,Ross Colin J.⁴,Wasserman Wyeth⁴,Meinsma Rutger¹,Zoetekouw Lida¹,van Karnebeek Clara D.M.¹⁴

Affiliation:

1. Departments of Clinical Chemistry; Laboratory Genetic Metabolic Diseases; Pediatrics and Clinical Genetics; Academic Medical Center; University of Amsterdam; Emma Children's Hospital; Amsterdam the Netherlands

2. Departments of Biochemistry; Molecular Biology and Medical Genetics; Cumming School of Medicine; University of Calgary; Calgary Alberta Canada

3. Alberta Children's Hospital Research Institute; University of Calgary; Calgary Alberta Canada

4. Departments of Pediatrics and Medical Genetics; Centre for Molecular Medicine and Therapeutics; University of British Columbia; Vancouver British Columbia Canada

5. Department of Pediatrics; University of Pittsburgh; School of Medicine; Pittsburgh Pennsylvania

6. Graduate School of Public Health; University of Pittsburgh; Pittsburgh Pennsylavania

7. Uppsala University; Department of Chemistry; Biomedical Center; Uppsala Sweden

Funder

BC Children's Hospital Research Institute Foundation

Genome British Columbia

Michael Smith Foundation for Health Research Scholar Award

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

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3. Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings;Chen;Molecular Syndromology,2014

4. Two new cases of 1p21.3 deletions and an unbalanced translocation t(8;12) among individuals with syndromic obesity;D'Angelo;Molecular Syndromology,2015

5. Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency;Enns;Journal of Inherited Metabolic Disease,2004

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4. Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia;Frontiers in Genetics;2022-01-25

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