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Neurogenetics. 2017 Jul;18(3):169-174. doi: 10.1007/s10048-017-0512-x. Epub 2017 Mar 11.

Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.

Author information

1
Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
2
Medical University of Gdansk, Gdansk, Poland.
3
Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. lmessiaen@uabmc.edu.

Abstract

Multiplex ligation-dependent probe amplification (MLPA) has been widely used to identify copy-number variations (CNVs), but MLPA's sensitivity and specificity in mosaic CNV detection are largely unknown. Here, we present two mosaic deletions identified by MLPA as NF1 deletion of exons 17-21 and NF2 deletion of exons 9-10. Through cDNA analysis, genomic breakpoint-spanning PCR and Sanger sequencing, we found however both NF1 and NF2 deletions are each composed of two consecutive deletions, which cannot be differentiated by MLPA. Importantly, these consecutive deletions are most likely originating from a single genomic rearrangement and have been preserved independently in different populations of cells.

KEYWORDS:

Deletion; MLPA; Mosaic rearrangement mechanism; NF1; NF2

PMID:
28285357
DOI:
10.1007/s10048-017-0512-x
[Indexed for MEDLINE]

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