CareLit Fachartikel

Identification of new leukemia associated gene mutations by whole genome sequencing of DNA from two siblings with congenital neutropenia and secondary AML

M Klimiankou, S Kandabarau, M Reuter, AL Hagemann, C Zeidler, K Welte, J Skokowa · Klinische Pädiatrie · 2013 · Heft 05

Dokument
1142288
CareLit-ID
Jahr
2013
Publikation
PDF
nein
Metadaten
DOI
ja
zitierfähig

Bibliografische Angaben

Zeitschrift
Klinische Pädiatrie
Autor:innen
M Klimiankou, S Kandabarau, M Reuter, AL Hagemann, C Zeidler, K Welte, J Skokowa
Ausgabe
Heft 05 / 2013
Seiten
–
Erschienen: 2013-05-22 00:00:00
ISSN
0300-8630
DOI
10.1055/s-0033-1343618

Zusammenfassung

We have performed a whole genome sequencing (WGS) of DNA samples from a family with two affected siblings suffering from CN. Both children harbored ELANE gene mutations and developed AML. Father of the children demonstrates somatic mosaicism for the ELANE mutation and has a mild neutropenia. For WGS we used Complete Genomics technology (Complete Genomics, USA). More than 90% of genomes were sequenced at high quality with minimum coverage of at least 20-fold. As an example, 3437845 single nucleotide variants (SNVs) were identified in DNA isolated from leukemia blasts of sequenced CN patient. The set of filters we…

Schlagworte

Mutations Siblings Affected Candidate Inherited Leukemia Sequencing Children Elane Father Sequenced Whole Klinische Pädiatrie