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Identification of g...
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Buckley, Patrick G.Uppsala universitet,Institutionen för genetik och patologi,Dumanski
(author)
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2
- Article/chapterEnglish2005
Publisher, publication year, extent ...
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Hindawi Limited,2005
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-80378
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-80378URI
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https://doi.org/10.1002/humu.20255DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1927865URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Schwannomatosis is characterized by multiple peripheral and cranial nerve schwannomas that occur in the absence of bilateral 8th cranial nerve schwannomas. The latter is the main diagnostic criterion of neurofibromatosis type 2 (NF2), which is a related but distinct disorder. The genetic factors underlying the differences between schwannomatosis and NF2 are poorly understood, although available evidence implicates chromosome 22 as the primary location of the gene(s) of interest. To investigate this, we comprehensively profiled the DNA copy number in samples from sporadic and familial schwannomatosis, NF2, and a large cohort of normal controls. Using a tiling-path chromosome 22 genomic array, we identified two candidate regions of copy number variation, which were further characterized by a PCR-based array with higher resolution. The latter approach allows the detection of minute alterations in total genomic DNA, with as little as 1.5 kb per measurement point of nonredundant sequence on the array. In DNA derived from peripheral blood from a schwannomatosis patient and a sporadic schwannoma sample, we detected rearrangements of the immunoglobulin lambda (IGL) locus, which is unlikely to be due to a B-cell specific somatic recombination of IGL. Analysis of normal controls indicated that these IGL rearrangements were restricted to schwannomatosis/schwannoma samples. In the second candidate region spanning GSTT1 and CABIN1 genes, we observed a frequent copy number polymorphism at the GSTT1 locus. We further describe missense mutations in the CABIN1 gene that are specific to samples from schwannomatosis and NF2 and make this gene a plausible candidate for contributing to the pathogenesis of these disorders.
Subject headings and genre
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IGLV
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IGLC
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immunoglobulin
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genomic array
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array-CGH' CABIN1
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GSTT1
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GSTT2
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RAG1
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RAG2
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B-lymphocyte
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schwannoma
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MEDICINE
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MEDICIN
Added entries (persons, corporate bodies, meetings, titles ...)
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Mantripragada, Kiran K.Uppsala universitet,Institutionen för genetik och patologi
(author)
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Diaz de Ståhl, TeresitaUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)testahl
(author)
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Piotrowski, ArkadiuszUppsala universitet,Institutionen för genetik och patologi
(author)
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Hansson, Caisa M.Uppsala universitet,Institutionen för genetik och patologi
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Kiss, Hajnalka
(author)
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Vetrie, David
(author)
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Ernberg, Ingemar T.Karolinska Institutet
(author)
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Nordenskjöld, MagnusKarolinska Institutet
(author)
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Bolund, Lars
(author)
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Sainio, Markku
(author)
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Rouleau, Guy A.
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Niimura, Michihito
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Wallace, Andrew J.
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Evans, D. Gareth R.
(author)
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Grigelionis, GintautasUppsala universitet,Institutionen för genetik och patologi
(author)
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Menzel, UweUppsala universitet,Institutionen för genetik och patologi
(author)
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Dumanski, Jan P.Uppsala universitet,Institutionen för genetik och patologi(Swepub:uu)janduman
(author)
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Dumanski, JE
(author)
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Uppsala universitetInstitutionen för genetik och patologi
(creator_code:org_t)
Related titles
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In:Human Mutation: Hindawi Limited26:6, s. 540-91059-77941098-1004
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Human Mutation
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