In:
Molecular Genetics & Genomic Medicine, Wiley, Vol. 4, No. 4 ( 2016-07), p. 457-464
Abstract:
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 SCN 1A , the major gene implicated in epilepsy, are found in the majority of Dravet syndrome ( DS ) patients, we focused on missed SCN 1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN 1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN 1A mutation‐negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN 1A mutations are an even more frequent cause of DS than already anticipated.
Type of Medium:
Online Resource
ISSN:
2324-9269
,
2324-9269
DOI:
10.1002/mgg3.2016.4.issue-4
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
2734884-2
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