Pitfalls in genetic testing: the story of missed SCN1A mutations
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- 作者：Tania Djé ; mié ; Sarah Weckhuysen ; Sarah von Spiczak ; Gemma L. Carvill ; Johanna Jaehn ; Anna-Kaisa Anttonen ; Eva Brilstra ; Hande S. Caglayan ; Carolien G. de Kovel ; Christel Depienne ; Eija Gaily ; Elena Gennaro ; Beatriz G. Giraldez ; Padhraig Gormley ; Rosa Guerrero-Ló ; pez ; Renzo Guerrini ; Eija Hmlinen ; Corinna Hartmann ; Laura Hernandez-Hernandez ; Helle Hjalgrim ; Bobby P. C. Koeleman ; Eric Leguern ; Anna-Elina Lehesjoki ; Johannes R. Lemke ; Costin Leu ; Carla Marini ; Jacinta M. McMahon ; Davide Mei ; Rikke S. Mø ; ller ; Hiltrud Muhle ; Candace T. Myers ; Caroline Nava ; Jose M. Serratosa ; Sanjay M. Sisodiya ; Ulrich Stephani ; Pasquale Striano ; Marjan J. A. van Kempen ; Nienke E. Verbeek ; Sunay Usluer ; Federico Zara ; Aarno Palotie ; Heather C. Mefford ; Ingrid E. Scheffer ; Peter De Jonghe ; Ingo Helbig ; Arvid Suls and EuroEPINOMICS-RES Dravet working group
- 刊名：Molecular Genetics & Genomic Medicine
- 出版年：2016
- 出版时间：July 2016
- 年：2016
- 卷：4
- 期：4
- 页码：457-464
- 全文大小：98K
- ISSN：2324-9269
文摘
Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations.