A novel PML-ADAMTS17-RARA gene rearrangement in a patient with pregnancy-related acute promyelocytic leukemia

Lim, Gi Hyun; Cho, Eun Hae; Cho, Sun Young; Shin, So Young; Park, Kang Hyun; Yang, Young Joon; Oh, Seung Hwan; Marschalek, Rolf; Meyer, Claus; Park, Tae Sung

doi:10.1016/j.leukres.2011.03.020

Cited by 14 publications

(6 citation statements)

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“…A cryptic PML-RARA rearrangement in acute promyelocytic leukemia (APL) patient and another unique case of PML-ADAMTS17-RARA rearrangement in APL were identified by using LD-PCR [13, 14]. The molecular identification of a PML-RARA genomic fusion breakpoint using genomic DNA from the PML-RARA FISH-negative cell pellet is a representative example of the utility of this method [13].…”

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confidence: 99%

Diagnostic Usefulness of Genomic Breakpoint Analysis of Various Gene Rearrangements in Acute Leukemias: A Perspective of Long Distance– or Long Distance Inverse-PCR–based Approaches

et al. 2012

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confidence: 99%

Diagnostic Usefulness of Genomic Breakpoint Analysis of Various Gene Rearrangements in Acute Leukemias: A Perspective of Long Distance– or Long Distance Inverse-PCR–based Approaches

et al. 2012

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“…We speculate that a mobile element (SINE) which spans the 3’ inversion breakpoint is likely to have been involved in the inversion mechanism, although there is no similar mobile element in the 5’ region. There is one previous report of a gene rearrangement involving ADAMTS17 found in a patient with pregnancy-related acute promyelocytic leukemia [ 9 ]. This rearrangement resulted in a novel transcription product with the insertion of exon 15 of ADAMTS17 between the PML and RARA genes.…”

Section: Discussionmentioning

confidence: 99%

A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17

et al. 2015

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Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive diseases and identification of novel disease-causing variants, often using unorthodox experimental designs. In our investigation we demonstrate successful mapping of the locus for primary open angle glaucoma in the Petit Basset Griffon Vendéen dog breed with 12 cases and 12 controls, using a novel genotyping by exome sequencing approach. The resulting genome-wide association signal was followed up by genome sequencing of an individual case, leading to the identification of an inversion with a breakpoint disrupting the ADAMTS17 gene. Genotyping of additional controls and expression analysis provide strong evidence that the inversion is disease causing. Evidence of cryptic splicing resulting in novel exon transcription as a consequence of the inversion in ADAMTS17 is identified through RNAseq experiments. This investigation demonstrates how a novel genotyping by exome sequencing approach can be used to map an autosomal recessive disorder in the dog, with the use of genome sequencing to facilitate identification of a disease-associated variant.

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“…The LD-PCR method was used to further characterize this unusual PML/RARA rearrangement which has been previously described by our research group [3,4,5,6]. It was used to determine the genomic PML/RARA fusion site.…”

Section: Figmentioning

confidence: 99%

Acute Promyelocytic Leukemia with a Rare PML Exon 4/RARA Exon 3 Fusion Transcript Variant

Park

Lee

et al. 2013

Acta Haematol

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A novel PML-ADAMTS17-RARA gene rearrangement in a patient with pregnancy-related acute promyelocytic leukemia

Cited by 14 publications

References 10 publications

Diagnostic Usefulness of Genomic Breakpoint Analysis of Various Gene Rearrangements in Acute Leukemias: A Perspective of Long Distance– or Long Distance Inverse-PCR–based Approaches

Diagnostic Usefulness of Genomic Breakpoint Analysis of Various Gene Rearrangements in Acute Leukemias: A Perspective of Long Distance– or Long Distance Inverse-PCR–based Approaches

A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17

Acute Promyelocytic Leukemia with a Rare <b><i>PML</i></b> Exon 4/<b><i>RARA</i></b> Exon 3 Fusion Transcript Variant

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