Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene

Delague, Valérie; Bareil, Corinne; Tuffery, Sylvie; Bouvagnet, Patrice; Chouery, Éliane; Koussa, Salam; Maisonobe, Thierry; Loiselet, Jacques; Mégarbané, André; Claustres, Mireille

doi:10.1086/302980

Cited by 81 publications

(62 citation statements)

References 22 publications

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“…Another positional candidate for causing neuropathy based on this idea of complementation is Sirt2, which is a member of the Sir2 family of NAD-dependent histone deacetylase enzymes thought to regulate gene silencing, aging, and the cell cycle (34), is located at 19q13, and overlaps with the mapping of CMT2B2 at 19q13.3 (35), as well as a severe form of CMT4 at 19q13.1-q13.3 (36). Finally, AF1q, a transmembrane protein found to cause acute leukemia when fused with the protein MLL (mixed lineage leukemia) (37), also overlaps with the mapping of CMT2B1 at 1q21 (38).…”

Section: Discussionmentioning

confidence: 99%

Deciphering peripheral nerve myelination by using Schwann cell expression profiling

Nagarajan

Le²,

Mahoney³

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

125

131

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Although mutations in multiple genes are associated with inherited demyelinating neuropathies, the molecular components and pathways crucial for myelination remain largely unknown. To approach this question, we performed genome-wide expression analysis in several paradigms where the status of peripheral nerve myelination is dynamically changing. Anchor gene correlation analysis, a form of microarray analysis that integrates functional information, using correlation-based clustering, with a statistically rigorous test, the Westfall and Young step-down algorithm, was applied to this data set. Biological pathways active in myelination, genes encoding proteins involved in myelin synthesis, and genes whose mutation results in myelination defects were identified. Many known genes and previously uncharacterized ESTs not heretofore associated with myelination were also identified. One of these ESTs, MASR (myelin-associated SUR4 protein), encodes a member of the SUR4 family of fatty acid desaturases, enzymes involved in elongation of very long chain fatty acids. Its specific localization in myelinating Schwann cells indicates a crucial role for MASR in normal myelin lipid synthesis.

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Section: Discussionmentioning

confidence: 99%

Deciphering peripheral nerve myelination by using Schwann cell expression profiling

Nagarajan

Le²,

Mahoney³

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

125

131

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“…A set of 382 highly-polymorphic, fluorescently-labeled markers on chromosomes 1-22 with an average spacing of 10 cM (ABI PRISM Linkage Mapping Set, version 2.5 -Applied Biosystems, Foster City, CA, USA), were chosen from the Généthon linkage map [Weissenbach et al, 1992;Gyapay et al, 1994;Dib et al, 1996] and genotyped as described elsewhere [Delague et al, 2000]. A set of polymorphic markers flanking the candidate region was selected for subsequent fine mapping using the UCSC Human Genome browser.…”

Section: Genome Wide Screen For Homozygosity Using Str Markersmentioning

confidence: 99%

Mutations inTREM2lead to pure early-onset dementia without bone cysts

et al. 2008

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A genome-wide screen using 382 STR markers to localize and identify the gene implicated in early-onset dementia (EOD) without bone cysts in a Lebanese family with three affected subjects was conducted. A unique locus homozygous by descent at chromosome 6p21.2 locus was identified. Candidate genes were explored by fluorescent sequencing and the effect of the identified mutation was confirmed by qualitative and quantitative RT-PCR. The genetic analysis revealed a novel deletion, c.40+3delAGG, in the 5' consensus donor splice site in intron 1 of TREM2 gene which is known to be responsible for PLOSL (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy) also designated as Nasu-Hakola disease. In silico analysis predicted a lower strength for the novel donor splice site. Qualitative RT-PCR revealed normal transcript while quantitative RT-PCR showed over twofold down-regulation of TREM2 transcripts. The expression profile of six genes SPP1, NEDD9, FSCN, BCL3, NFKBIA and CCL2 known as disrupted in TREM2-deficient samples was studied and showed same expression profile as TREM2-mutated samples except for CCL2 which was normally regulated. The significantly-reduced expression of TREM2 in our patients and the expression profiles of the six studied genes confirm a role for TREM2 in this distinct phenotype of EOD without bone cysts. To our knowledge, this is the first report of mutations in TREM2 causing a pure dementia.

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“…O subtipo CMT4F foi identificado pela primeira vez em uma família libanesa 54 . Resulta de mutações no gene da periaxina (PRX), localizado no cromossomo 19q13.1-13.2 55,56 .…”

Section: Cmt4funclassified

Fenótipos Raros de Neuropatia Hereditária: Charcot-Marie-Tooth Tipo 4

Gondim

Oliveira

Araújo³

et al. 2014

RNC

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RESUMOIntrodução. A Doença de Charcot-Marrie-Tooth (CMT) compreende um grupo geneticamente heterogêneo de neuropatias sensitivo--motoras hereditárias autossômicas dominantes, recessivas e ligadas ao cromossomo X. Objetivo. O objetivo do presente trabalho é realizar uma revisão de literatura a respeito dos principais tipos de CMT4 (variantes desmielinizantes autossômicas recessivas de CMT). Método. Foi realizada uma ampla revisão de literatura buscando artigos originais em inglês (ou pelo menos com resumo em inglês), com descrição das características clínicas, distribuição étnica e geográfica das diversas variantes de CMT4 através das ferramentas OMIM e pubmed da base de dados da NCBI. Resultados. Identificamos e descrevemos os genes, características clínicas, distribuição étnica e geográfica de 12 variantes de CMT4: A,

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Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene

Cited by 81 publications

References 22 publications

Deciphering peripheral nerve myelination by using Schwann cell expression profiling

Deciphering peripheral nerve myelination by using Schwann cell expression profiling

Mutations inTREM2lead to pure early-onset dementia without bone cysts

Fenótipos Raros de Neuropatia Hereditária: Charcot-Marie-Tooth Tipo 4

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