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Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
المؤلفون المشاركون
Høyer, Helle
Hilmarsen, Hilde T.
Holla, Øystein L.
Busk, Øyvind L.
Skjelbred, Camilla F.
Braathen, Geir J.
Russell, Michael B.
Strand, Linda
Svendsen, Marit
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-13، 13ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-06-15
دولة النشر
مصر
عدد الصفحات
13
التخصصات الرئيسية
الملخص EN
Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy.
Today more than 40 CMT genes have been identified.
Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive.
Thus, more efficient and less costly methods are needed in clinical diagnostics.
We included a population based sample of 81 CMT families.
Gene mutations had previously been identified in 22 families; the remaining 59 families were analysed by next-generation sequencing.
Thirty-two CMT genes and 19 genes causing other inherited neuropathies were included in a custom panel.
Variants were classified into five pathogenicity classes by genotype-phenotype correlations and bioinformatics tools.
Gene mutations, classified certainly or likely pathogenic, were identified in 37 (46%) of the 81 families.
Point mutations in known CMT genes were identified in 21 families (26%), whereas four families (5%) had point mutations in other neuropathy genes, ARHGEF10, POLG, SETX, and SOD1.
Eleven families (14%) carried the PMP22 duplication and one family carried a MPZ duplication (1%).
Most mutations were identified not only in known CMT genes but also in other neuropathy genes, emphasising that genetic analysis should not be restricted to CMT genes only.
Next-generation sequencing is a cost-effective tool in diagnosis of CMT improving diagnostic precision and time efficiency.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Høyer, Helle& Braathen, Geir J.& Busk, Øyvind L.& Holla, Øystein L.& Svendsen, Marit& Hilmarsen, Hilde T.…[et al.]. 2014. Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing. BioMed Research International،Vol. 2014, no. 2014, pp.1-13.
https://search.emarefa.net/detail/BIM-454834
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Høyer, Helle…[et al.]. Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing. BioMed Research International No. 2014 (2014), pp.1-13.
https://search.emarefa.net/detail/BIM-454834
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Høyer, Helle& Braathen, Geir J.& Busk, Øyvind L.& Holla, Øystein L.& Svendsen, Marit& Hilmarsen, Hilde T.…[et al.]. Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-13.
https://search.emarefa.net/detail/BIM-454834
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-454834
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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