Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.

Szczegóły
Abstrakt

Tytuł:: Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Autorzy:: Mortreux J; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Bacquet J; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Boyer A; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Alazard E; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Bellance R; Centre de référence Caribéen pour les maladies neuromusculaires, CeRCa, Hôpital Pierre-Zobda-Quitman, CHU de Martinique, France.
Giguet-Valard AG; Centre de référence Caribéen pour les maladies neuromusculaires, CeRCa, Hôpital Pierre-Zobda-Quitman, CHU de Martinique, France.
Cerino M; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Krahn M; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Audic F; Centre de référence des maladies neuromusculaires, Hôpital de la Timone enfant, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Chabrol B; Centre de référence des maladies neuromusculaires, Hôpital de la Timone enfant, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Laugel V; Centre de référence des maladies neuromusculaires, Service de pédiatrie, CHU Strasbourg, France.
Desvignes JP; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Béroud C; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Nguyen K; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Verschueren A; Centre de référence des maladies neuromusculaires, Hôpital de la Timone Adulte, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Lévy N; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Attarian S; Centre de référence des maladies neuromusculaires, Hôpital de la Timone Adulte, Assistance-Publique Hôpitaux de Marseille, Marseille, France.
Delague V; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Missirian C; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Bonello-Palot N; Département de génétique médicale, Hôpital Timone enfants, Assistance-Publique Hôpitaux de Marseille, Marseille, France. .; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France. .
Źródło:: Journal of human genetics [J Hum Genet] 2020 Mar; Vol. 65 (3), pp. 313-323. Date of Electronic Publication: 2019 Dec 18.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Publication: 2009- : London : Nature Pub. Group
Original Publication: Tokyo : Springer-Verlag, c1998-
MeSH Terms:: Charcot-Marie-Tooth Disease/*genetics
Cytoskeletal Proteins/*genetics
Microfilament Proteins/*genetics
Nerve Tissue Proteins/*genetics
Ubiquitin-Protein Ligases/*genetics
Adolescent ; Adult ; Charcot-Marie-Tooth Disease/pathology ; Child ; Child, Preschool ; Comparative Genomic Hybridization ; DNA Copy Number Variations/genetics ; Exome/genetics ; Female ; Genetic Predisposition to Disease/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Phenotype ; Exome Sequencing ; Young Adult
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Substance Nomenclature:: 0 (Cytoskeletal Proteins)
0 (FGD4 protein, human)
0 (GAN protein, human)
0 (GDAP protein)
0 (Microfilament Proteins)
0 (Nerve Tissue Proteins)
EC 2.3.2.27 (LRSAM1 protein, human)
EC 2.3.2.27 (Ubiquitin-Protein Ligases)
Entry Date(s):: Date Created: 20191220 Date Completed: 20201009 Latest Revision: 20221207
Update Code:: 20240105
DOI:: 10.1038/s10038-019-0710-5
PMID:: 31852984
: Czasopismo naukowe

Charcot-Marie-Tooth disease (CMT) is a hereditary sensory-motor neuropathy characterized by a strong clinical and genetic heterogeneity. Over the past few years, with the occurrence of whole-exome sequencing (WES) or whole-genome sequencing (WGS), the molecular diagnosis rate has been improved by allowing the screening of more than 80 genes at one time. In CMT, except the recurrent PMP22 duplication accounting for about 60% of pathogenic variations, pathogenic copy number variations (CNVs) are rarely reported and only a few studies screening specifically CNVs have been performed. The aim of the present study was to screen for CNVs in the most prevalent genes associated with CMT in a cohort of 200 patients negative for the PMP22 duplication. CNVs were screened using the Exome Depth software on next generation sequencing (NGS) data obtained by targeted capture and sequencing of a panel of 81 CMT associated genes. Deleterious CNVs were identified in four patients (2%), in four genes: GDAP1, LRSAM1, GAN, and FGD4. All CNVs were confirmed by high-resolution oligonucleotide array Comparative Genomic Hybridization (aCGH) and/or quantitative PCR. By identifying four new CNVs in four different genes, we demonstrate that, although they are rare mutational events in CMT, CNVs might contribute significantly to mutational spectrum of Charcot-Marie-Tooth disease and should be searched in routine NGS diagnosis. This strategy increases the molecular diagnosis rate of patients with neuropathy.

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