PMID- 20538086
OWN - NLM
STAT- MEDLINE
DCOM- 20110111
LR  - 20220310
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 53
IP  - 5
DP  - 2010 Sep-Oct
TI  - Usefulness of MLPA in the detection of SHOX deletions.
PG  - 234-8
LID - 10.1016/j.ejmg.2010.06.001 [doi]
AB  - SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such 
      as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). 
      SHOX deletions are responsible for approximately two thirds of isolated 
      haploinsufficiency; therefore, it is important to determine the most appropriate 
      methodology for detection of gene deletion. In this study, three methodologies 
      for the detection of SHOX deletions were compared: the fluorescence in situ 
      hybridization (FISH), microsatellite analysis and multiplex ligation-dependent 
      probe amplification (MLPA). Forty-four patients (8 LWD and 36 DSS) were analyzed. 
      The cosmid LLNOYCO3'M'34F5 was used as a probe for the FISH analysis and 
      microsatellite analysis were performed using three intragenic microsatellite 
      markers. MLPA was performed using commercial kits. Twelve patients (8 LWD and 4 
      DSS) had deletions in SHOX area detected by MLPA and 2 patients generated 
      discordant results with the other methodologies. In the first case, the deletion 
      was not detected by FISH. In the second case, both FISH and microsatellite 
      analyses were unable to identify the intragenic deletion. In conclusion, MLPA was 
      more sensitive, less expensive and less laborious; therefore, it should be used 
      as the initial molecular method for the detection of SHOX gene deletion.
CI  - Copyright (c) 2010 Elsevier Masson SAS. All rights reserved.
FAU - Funari, Mariana F A
AU  - Funari MF
AD  - Unidade de Endocrinologia do Desenvolvimento, Hospital das Clinicas, Faculdade de 
      Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil.
FAU - Jorge, Alexander A L
AU  - Jorge AA
FAU - Souza, Silvia C A L
AU  - Souza SC
FAU - Billerbeck, Ana E C
AU  - Billerbeck AE
FAU - Arnhold, Ivo J P
AU  - Arnhold IJ
FAU - Mendonca, Berenice B
AU  - Mendonca BB
FAU - Nishi, Mirian Y
AU  - Nishi MY
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100609
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (Homeodomain Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (Short Stature Homeobox Protein)
RN  - Leri-Weil syndrome
SB  - IM
MH  - *Gene Deletion
MH  - Growth Disorders/genetics
MH  - Haploinsufficiency
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Microsatellite Repeats
MH  - *Nucleic Acid Amplification Techniques
MH  - Osteochondrodysplasias/*genetics
MH  - Phenotype
MH  - Short Stature Homeobox Protein
EDAT- 2010/06/12 06:00
MHDA- 2011/01/12 06:00
CRDT- 2010/06/12 06:00
PHST- 2009/10/27 00:00 [received]
PHST- 2010/06/01 00:00 [accepted]
PHST- 2010/06/12 06:00 [entrez]
PHST- 2010/06/12 06:00 [pubmed]
PHST- 2011/01/12 06:00 [medline]
AID - S1769-7212(10)00050-9 [pii]
AID - 10.1016/j.ejmg.2010.06.001 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2010 Sep-Oct;53(5):234-8. doi: 10.1016/j.ejmg.2010.06.001. Epub 
      2010 Jun 9.