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Comment
. 2018 Dec;32(12):2720-2723.
doi: 10.1038/s41375-018-0231-9. Epub 2018 Aug 7.

Germline duplication of ATG2B and GSKIP genes is not required for the familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32

Daria V Babushok  1   2 , Natasha L Stanley  3 , Jennifer J D Morrissette  4 , David B Lieberman  4 , Timothy S Olson  3   5 , Stella T Chou  6 , Elizabeth O Hexner  7
Affiliations
Comment

Germline duplication of ATG2B and GSKIP genes is not required for the familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32

Daria V Babushok et al. Leukemia. 2018 Dec.
No abstract available

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Conflict of interest statement

Conflict of interest statement: The authors have no conflicts of interests to disclose.

Figures

Figure 1.
Figure 1.
A) A pedigree of a North American family with an autosomal dominant inheritance of predisposition to myeloid neoplasms. The black symbol represents cases with myeloid neoplasms, detailed in Table 1; the gray symbol indicates other types of hematologic malignancy, in this case, lymphoma not otherwise specified. B) The genetic characterization of the 1.8Mb tandem duplication on chromosome 14q32 in the proband’s father (III-2). The breakpoints were characterized by whole genome sequencing (WGS) as shown within the Integrative Genomics Viewer in the bottom panel. The breakpoints of the duplication are indicated by the red color of the aberrant reads and an increased read depth in the region of the duplication. All breakpoints were additionally validated by Sanger sequencing, with the corresponding chromatographs shown in the middle panel. Sequence data have been deposited at the European Genome-phenome Archive (EGA), which is hosted by the EBI and the CRG, under accession number EGAS00001003111. All coordinates are based on hg19. C) Schematic alignment of the 14q32 duplications in the West Indian, North American and Australian families. Vertical lines indicate that the 56Kb shared region encompasses the TCL1A but not the ATG2B and GSKIP genes. The ~700 kb duplication in the Australian family is depicted based on the report by Hahn et al. An expanded view of the shared region is illustrated in the bottom panel based on the annotation from the UCSC Genome Browser and includes TCL1A and a part of the noncoding transcript BX247990. The regions of enrichment of histone H3K27 acetylation marks are shown as pink peaks in the bottom panel.
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