PMID- 21487440
OWN - NLM
STAT- MEDLINE
DCOM- 20120103
LR  - 20220317
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 19
IP  - 9
DP  - 2011 Sep
TI  - Multiplex ligation-depending probe amplification is not suitable for detection of 
      low-grade mosaicism.
PG  - 1009-12
LID - 10.1038/ejhg.2011.60 [doi]
AB  - 'Apparent non-penetrance' occurs in several genetic disorders, including tuberous 
      sclerosis complex and neurofibromatosis type 1: clinically unaffected parents may 
      have multiple affected offspring. Germ line or somatic mosaicism in one of the 
      parents of the index patient is the probable cause and results in an enhanced 
      recurrence risk. Therefore, it is of great importance to use the most sensitive 
      technology for testing DNA of the parents of the index patient for the 
      presence/absence of the familial mutation. To detect large rearrangements 
      multiplex ligation-depending probe amplification (MLPA) is often used. Here we 
      show that MLPA is less sensitive in detecting low-grade somatic mosaicism than 
      fluorescence in situ hybridization (FISH) or a mutation-specific PCR test. 
      Therefore, we recommend FISH (if possible) or PCR analysis for the analysis of 
      parental DNA.
FAU - van Veghel-Plandsoen, Monique M
AU  - van Veghel-Plandsoen MM
AD  - Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The 
      Netherlands. m.plandsoen@erasmusmc.nl
FAU - Wouters, Cokkie H
AU  - Wouters CH
FAU - Kromosoeto, Joan N R
AU  - Kromosoeto JN
FAU - den Ridder-Klunnen, Mariska C
AU  - den Ridder-Klunnen MC
FAU - Halley, Dicky J J
AU  - Halley DJ
FAU - van den Ouweland, Ans M W
AU  - van den Ouweland AM
LA  - eng
PT  - Journal Article
DEP - 20110413
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Germ Cells
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - *Mosaicism
MH  - Neurofibromatosis 1/genetics
MH  - Nucleic Acid Amplification Techniques/*methods
MH  - *Parents
MH  - *Penetrance
MH  - Polymerase Chain Reaction
MH  - Sensitivity and Specificity
MH  - Tuberous Sclerosis/genetics
PMC - PMC3179360
EDAT- 2011/04/14 06:00
MHDA- 2012/01/04 06:00
PMCR- 2012/09/01
CRDT- 2011/04/14 06:00
PHST- 2011/04/14 06:00 [entrez]
PHST- 2011/04/14 06:00 [pubmed]
PHST- 2012/01/04 06:00 [medline]
PHST- 2012/09/01 00:00 [pmc-release]
AID - ejhg201160 [pii]
AID - 10.1038/ejhg.2011.60 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2011 Sep;19(9):1009-12. doi: 10.1038/ejhg.2011.60. Epub 2011 Apr 
      13.