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  • Nmezi, BruceUniv Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USA (författare)

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

  • Artikel/kapitelEngelska2019

Förlag, utgivningsår, omfång ...

  • 2019
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-393861
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-393861URI
  • https://doi.org/10.1212/NXG.0000000000000305DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

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

Anmärkningar

  • Objective Clinical, radiologic, and molecular analysis of patients with genomic deletions upstream of the LMNB1 gene.Methods Detailed neurologic, MRI examinations, custom array comparative genomic hybridization (aCGH) analysis, and expression analysis were performed in patients at different clinical centers. All procedures were approved by institutional review boards of the respective institutions.Results Five patients from 3 independent families presented at ages ranging from 32 to 52 years with neurologic symptoms that included progressive hypophonia, upper and lower limb weakness and spasticity, and cerebellar dysfunction and MRIs characterized by widespread white matter alterations. Patients had unique nonrecurrent deletions upstream of the LMNB1, varying in size from 250 kb to 670 kb. Deletion junctions were embedded in repetitive elements. Expression analysis revealed increased LMNB1 expression in patient cells.Conclusions Our findings confirmed the association between LMNB1 upstream deletions and leukodystrophy previously reported in a single family, expanding the phenotypic and molecular description of this condition. Although clinical and radiologic features overlapped with those of autosomal dominant leukodystrophy because of LMNB1 duplications, patients with deletions upstream of LMNB1 had an earlier age at symptom onset, lacked early dysautonomia, and appeared to have lesser involvement of the cerebellum and sparing of the spinal cord diameter on MRI. aCGH analysis defined a smaller minimal critical region required for disease causation and revealed that deletions occur at repetitive DNA genomic elements. Search for LMNB1 structural variants (duplications and upstream deletions) should be an integral part of the investigation of patients with autosomal dominant adult-onset leukodystrophy.

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

  • Giorgio, ElisaUniv Turin, Dept Med Sci, Turin, Italy (författare)
  • Raininko, Raili,1945-Uppsala universitet,Radiologi(Swepub:uu)railrain (författare)
  • Lehman, AnnaBritish Columbia Childrens Hosp, Dept Med Genet, Vancouver, BC, Canada (författare)
  • Spielmann, MalteUniv Washington, Dept Genome Sci, Seattle, WA 98195 USA (författare)
  • Koenig, Mary KayUniv Texas Houston, McGovern Med Sch, Dept Pediat, Houston, TX USA (författare)
  • Adejumo, RahmatUniv Texas Houston, McGovern Med Sch, Dept Pediat, Houston, TX USA (författare)
  • Knight, MelissaUniv Texas Houston, McGovern Med Sch, Dept Pediat, Houston, TX USA (författare)
  • Gavrilova, RalitzaMayo Clin, Dept Clin Genom, Rochester, MN USA;Mayo Clin, Dept Neurol, Rochester, MN USA (författare)
  • Alturkustani, MuradKing Abdulaziz Univ, Dept Pathol, Jeddah, Saudi Arabia (författare)
  • Sharma, ManasWestern Univ, Dept ofMed Imaging, London, ON, Canada (författare)
  • Hammond, RobertWestern Univ, Dept Pathol, London, ON, Canada;Western Univ, Dept Clin Neurol Sci, London, ON, Canada (författare)
  • Gahl, William A.NHGRI, Off Clin Director, Bethesda, MD 20892 USA;NIH, NIH Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA (författare)
  • Toro, CamiloNHGRI, Off Clin Director, Bethesda, MD 20892 USA;NIH, NIH Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA (författare)
  • Brusco, AlfredoUniv Turin, Dept Med Sci, Turin, Italy (författare)
  • Padiath, Quasar S.Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USA (författare)
  • Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAUniv Turin, Dept Med Sci, Turin, Italy (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:NEUROLOGY-GENETICS5:12376-7839

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