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Sökning: id:"swepub:oai:DiVA.org:uu-382857" > Glutaminase Deficie...

  • van Kuilenburg, Andre B. P.Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,United Metab Dis, Amsterdam, Netherlands (författare)

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

  • Artikel/kapitelEngelska2019

Förlag, utgivningsår, omfång ...

  • 2019
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-382857
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-382857URI
  • https://doi.org/10.1056/NEJMoa1806627DOI

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  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified through detailed clinical and biochemical phenotyping, combined with whole-genome sequencing. The expansion was observed in three unrelated patients who presented with an early-onset delay in overall development, progressive ataxia, and elevated levels of glutamine. In addition to ataxia, one patient also showed cerebellar atrophy. The expansion was associated with a relative deficiency of GLS messenger RNA transcribed from the expanded allele, which probably resulted from repeat-mediated chromatin changes upstream of the GLS repeat. Our discovery underscores the importance of careful examination of regions of the genome that are typically excluded from or poorly captured by exome sequencing.

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Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Tarailo-Graovac, MajaUniv Calgary, Cumming Sch Med, Dept Biochem & Mol Biol, Calgary, AB, Canada;Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada;Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada (författare)
  • Richmond, Phillip A.Univ British Columbia, BC Childrens Hosp, Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada (författare)
  • Drogemoller, Britt I.Univ British Columbia, Fac Pharmaceut Sci, Vancouver, BC, Canada (författare)
  • Pouladi, Mahmoud A.Natl Univ Singapore, Dept Med, Singapore, Singapore;Natl Univ Singapore, Dept Physiol, Singapore, Singapore;Agcy Sci Technol & Res, Translat Lab Genet Med, Singapore, Singapore (författare)
  • Leen, ReneUniv Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands (författare)
  • Brand-Arzamendi, KoroboshkaSt Michaels Hosp, Zebrafish Ctr Adv Drug Discovery, Toronto, ON, Canada;Univ Toronto, Toronto, ON, Canada (författare)
  • Dobritzsch, Doreen,1972-Uppsala universitet,Biokemi(Swepub:uu)dordo526 (författare)
  • Dolzhenko, EgorIllumina, San Diego, CA USA (författare)
  • Eberle, Michael A.Illumina, San Diego, CA USA (författare)
  • Hayward, BruceNIDDK, Gene Struct & Dis Sect, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA (författare)
  • Jones, Meaghan J.Univ British Columbia, BC Childrens Hosp, Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada (författare)
  • Karbassi, FarhadSt Michaels Hosp, Zebrafish Ctr Adv Drug Discovery, Toronto, ON, Canada;Univ Toronto, Toronto, ON, Canada (författare)
  • Kobor, Michael S.Univ British Columbia, BC Childrens Hosp, Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada (författare)
  • Koster, JanetUniv Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands (författare)
  • Kumari, DamanNIDDK, Gene Struct & Dis Sect, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA (författare)
  • Li, MengSt Michaels Hosp, Zebrafish Ctr Adv Drug Discovery, Toronto, ON, Canada;Univ Toronto, Toronto, ON, Canada (författare)
  • MacIsaac, JuliaUniv British Columbia, BC Childrens Hosp, Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada (författare)
  • McDonald, CassandraUniv British Columbia, Dept Med Genet, Vancouver, BC, Canada (författare)
  • Meijer, JudithUniv Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands (författare)
  • Nguyen, CharlotteUniv Toronto, Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada (författare)
  • Rajan-Babu, Indhu-ShreeUniv British Columbia, Dept Med Genet, Vancouver, BC, Canada (författare)
  • Scherer, Stephen W.Univ Toronto, Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada;Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada (författare)
  • Sim, BerniceAgcy Sci Technol & Res, Translat Lab Genet Med, Singapore, Singapore (författare)
  • Trost, BrettUniv Toronto, Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada (författare)
  • Tseng, Laura A.Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands (författare)
  • Turkenburg, MarjoleinUniv Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands (författare)
  • van Vugt, Joke J. F. A.Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol, Utrecht, Netherlands;Project MinE ALS Sequencing Consortium, Utrecht, Netherlands (författare)
  • Veldink, Jan H.Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol, Utrecht, Netherlands;Project MinE ALS Sequencing Consortium, Utrecht, Netherlands (författare)
  • Walia, Jagdeep S.Univ Ottawa, Childrens Hosp Eastern Ontario, Dept Pediat, Div Med Genet, Ottawa, ON, Canada (författare)
  • Wang, YoudongSt Michaels Hosp, Zebrafish Ctr Adv Drug Discovery, Toronto, ON, Canada;Univ Toronto, Toronto, ON, Canada (författare)
  • van Weeghel, MichelUniv Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands (författare)
  • Wright, Galen E. B.Univ British Columbia, Fac Pharmaceut Sci, Vancouver, BC, Canada (författare)
  • Xu, XiaohongAgcy Sci Technol & Res, Translat Lab Genet Med, Singapore, Singapore (författare)
  • Yuen, Ryan K. C.Univ Toronto, Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada (författare)
  • Zhang, JinqiuAgcy Sci Technol & Res, Translat Lab Genet Med, Singapore, Singapore (författare)
  • Ross, Colin J.Univ British Columbia, Fac Pharmaceut Sci, Vancouver, BC, Canada (författare)
  • Wasserman, Wyeth W.Univ British Columbia, BC Childrens Hosp, Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada;Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada (författare)
  • Geraghty, Michael T.Univ Ottawa, Childrens Hosp Eastern Ontario, Dept Pediat, Div Med Genet, Ottawa, ON, Canada (författare)
  • Santra, SaikatBirmingham Childrens Hosp, Dept Clin Inherited Metab Disorders, Birmingham, W Midlands, England (författare)
  • Wanders, Ronald J. A.Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,United Metab Dis, Amsterdam, Netherlands (författare)
  • Wen, Xiao-YanSt Michaels Hosp, Zebrafish Ctr Adv Drug Discovery, Toronto, ON, Canada;Univ Toronto, Toronto, ON, Canada;Univ Toronto, Inst Med Sci, Dept Med, Toronto, ON, Canada;Univ Toronto, Inst Med Sci, Dept Physiol, Toronto, ON, Canada;Univ Toronto, Inst Med Sci, Dept Lab Med & Pathobiol, Toronto, ON, Canada (författare)
  • Waterham, Hans R.Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,United Metab Dis, Amsterdam, Netherlands (författare)
  • Usdin, KarenNIDDK, Gene Struct & Dis Sect, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA (författare)
  • van Karnebeek, Clara D. M.Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,United Metab Dis, Amsterdam, Netherlands;Univ British Columbia, BC Childrens Hosp, Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC, Canada;Univ British Columbia, Dept Pediat, Vancouver, BC, Canada (författare)
  • Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,Amsterdam Gastroenterol & Metab, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Chem,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Pediat,United Metab Dis, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Clin Genet,United Metab Dis, Amsterdam, NetherlandsUniv Calgary, Cumming Sch Med, Dept Biochem & Mol Biol, Calgary, AB, Canada;Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada;Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:New England Journal of Medicine380:15, s. 1433-14410028-47931533-4406

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