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  • Ali, ZafarUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad, Pakistan (författare)

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

  • Artikel/kapitelEngelska2017

Förlag, utgivningsår, omfång ...

  • 2017-12-06
  • Springer Science and Business Media LLC,2017
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-336718
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-336718URI
  • https://doi.org/10.1186/s12881-017-0504-6DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

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

Anmärkningar

  • Zafar Ali, Shumaila Zulfiqar and Joakim Klar contributed equally
  • BACKGROUND: Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar syndrome and variable degree of ataxia, ocular symptoms, hypotonia and developmental delay.CASE PRESENTATION: We report on a consanguineous family with autosomal recessive childhood onset of slowly progressive cerebellar ataxia and delayed psychomotor development in three siblings. MRI of an adult and affected family member revealed slightly widened cerebral and cerebellar sulci, suggesting generalized brain atrophy, and mild cerebellar atrophy. Using whole exome sequencing we identified a novel homozygous missense variant [c.2128C > T, p.(Arg710Trp)] in GRID2 that segregates with the disease. The missense variant is located in a conserved region encoding the extracellular serine-binding domain of the GluD2 protein and predicts a change in conformation of the protein.CONCLUSION: The widespread supratentorial brain abnormalities, absence of oculomotor symptoms, increased peripheral muscle tone and the novel missense mutation add to the clinical and genetic variability in GRID2 associated cerebellar syndrome. The neuroradiological findings in our family indicate a generalized neurodegenerative process to be taken into account in other families segregating complex clinical features and GRID2 mutations.

Ämnesord och genrebeteckningar

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

  • Zulfiqar, ShumailaUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab (författare)
  • Klar, Joakim,1974-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)jkl27173 (författare)
  • Wikström, Johan,1964-Uppsala universitet,Radiologi(Swepub:uu)jwi06759 (författare)
  • Ullah, FaridHuman Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad, Pakistan (författare)
  • Khan, AyazHuman Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad, Pakistan (författare)
  • Abdullah, UzmaHuman Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad, Pakistan (författare)
  • Baig, ShahidHuman Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS, Faisalabad, Pakistan (författare)
  • Dahl, NiklasUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)nikldahl (författare)
  • Uppsala universitetMedicinsk genetik och genomik (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:BMC Medical Genetics: Springer Science and Business Media LLC18:11471-2350

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