A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1B

Highlights • We identified a causative synonymous MPZ gene variant in two unrelated Charcot Marie Tooth patients • We analyzed the possible effect of this variant on MPZ mRNA splicing • The variant modifies the relative expression ratio of the 4 expected MPZ transcript isoforms

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Bibliographische Detailangaben
Veröffentlicht in:	Neuromuscular disorders : NMD 2016-08, Vol.26 (8), p.516-520
Hauptverfasser:	Corrado, L, Magri, S, Bagarotti, A, Carecchio, M, Piscosquito, G, Pareyson, D, Varrasi, C, Vecchio, D, Zonta, A, Cantello, R, Taroni, F, D'Alfonso, S
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - metabolism CMT Exons Family Female Humans Middle Aged MPZ Mutation Myelin P0 Protein - genetics Myelin P0 Protein - metabolism Neurology RNA Splicing RNA, Messenger - metabolism Synonymous mutation
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Beschreibung
Zusammenfassung:	Highlights • We identified a causative synonymous MPZ gene variant in two unrelated Charcot Marie Tooth patients • We analyzed the possible effect of this variant on MPZ mRNA splicing • The variant modifies the relative expression ratio of the 4 expected MPZ transcript isoforms
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2016.05.011