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Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations
Author(s) -
Kager Leo,
Jimenez Heredia Raúl,
Hirschmugl Tatjana,
Dmytrus Jasmin,
Krolo Ana,
Müller Heiko,
Bock Christoph,
Zeitlhofer Petra,
Dworzak Michael,
Mann Georg,
Holter Wolfgang,
Haas Oskar,
Boztug Kaan
Publication year - 2018
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15389
Subject(s) - sanger sequencing , exome sequencing , mutation , disease , dna sequencing , candidate gene , exome , identification (biology) , genetics , bioinformatics , computational biology , clinical phenotype , biology , medicine , gene , phenotype , botany
Summary Establishing a precise diagnosis is essential in inborn haematological cytopenias to enable appropriate treatment decisions and avoid secondary organ damage. However, both diversity and phenotypic overlap of distinct disease entities may make the identification of underlying genetic aetiologies by classical Sanger sequencing challenging. Instead of exome sequencing, we established a systematic next generation sequencing‐based panel targeting 292 candidate genes and screened 38 consecutive patients for disease‐associated mutations. Efficient identification of the underlying genetic cause in 17 patients (44·7%), including 13 novel mutations, demonstrates that this approach is time‐ and cost‐efficient, enabling optimal management and genetic counselling.