PMID- 28174603
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 10
DP  - 2017
TI  - MLPA analysis in a cohort of patients with autism.
PG  - 2
LID - 10.1186/s13039-017-0302-z [doi]
LID - 2
AB  - BACKGROUND: Autism is a global neurodevelopmental disorder which generally 
      manifests during the first 2 years and continues throughout life, with a range of 
      symptomatic variations. Epidemiological studies show an important role of genetic 
      factors in autism and several susceptible regions and genes have been identified. 
      The aim of our study was to validate a cost-effective set of commercial Multiplex 
      Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex 
      ligation dependent probe amplification (MS-MLPA) test in autistic children 
      refered by the neurodevelopmental center and autism unit of a Paediatric 
      Hospital. RESULTS: In this study 150 unrelated children with autism spectrum 
      disorders were analysed for copy number variation in specific regions of 
      chromosomes 15, 16 and 22, using MLPA. All the patients had been previously 
      studied by conventional karyotype and fluorescence in situ hybridization (FISH) 
      analysis for 15(q11.2q13) and, with these techniques, four alterations were 
      identified. The MLPA technique confirmed these four and identified further six 
      alterations by the combined application of the two different panels. CONCLUSIONS: 
      Our data show that MLPA is a cost effective straightforward and rapid method for 
      detection of imbalances in a clinically characterized population with autism. It 
      contributes to strengthen the relationship between genotype and phenotype of 
      children with autism, showing the clinical difference between deletions and 
      duplications.
FAU - Peixoto, Sara
AU  - Peixoto S
AD  - Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 
      Coimbra, Portugal. ISNI: 0000 0000 9511 4342. GRID: grid.8051.c
AD  - Neurodevelopmental and Autism Unit from Child Developmental Center and Centro de 
      Investigacao e Formacao Clinica, Hospital Pediatrico, Centro Hospitalar e 
      Universitario de Coimbra, Coimbra, Portugal. ISNI: 0000000106861985. GRID: 
      grid.28911.33
AD  - Department of Paediatrics of the Centro Hospitalar de Tras-os-Montes e Alto 
      Douro, EPE, Vila Real, Portugal.
FAU - Melo, Joana B
AU  - Melo JB
AD  - Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 
      Coimbra, Portugal. ISNI: 0000 0000 9511 4342. GRID: grid.8051.c
AD  - CNC.IBILI, University of Coimbra, Coimbra, Portugal. ISNI: 0000 0000 9511 4342. 
      GRID: grid.8051.c
AD  - CIMAGO - Centro Investigacao em Meio Ambiente, Genetica e Oncobiologia, Faculty 
      of Medicine, University of Coimbra, Coimbra, Portugal. ISNI: 0000 0000 9511 4342. 
      GRID: grid.8051.c
FAU - Ferrao, Jose
AU  - Ferrao J
AD  - Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 
      Coimbra, Portugal. ISNI: 0000 0000 9511 4342. GRID: grid.8051.c
FAU - Pires, Luis M
AU  - Pires LM
AD  - Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 
      Coimbra, Portugal. ISNI: 0000 0000 9511 4342. GRID: grid.8051.c
FAU - Lavoura, Nuno
AU  - Lavoura N
AD  - Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 
      Coimbra, Portugal. ISNI: 0000 0000 9511 4342. GRID: grid.8051.c
FAU - Pinto, Marta
AU  - Pinto M
AD  - Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 
      Coimbra, Portugal. ISNI: 0000 0000 9511 4342. GRID: grid.8051.c
FAU - Oliveira, Guiomar
AU  - Oliveira G
AD  - Neurodevelopmental and Autism Unit from Child Developmental Center and Centro de 
      Investigacao e Formacao Clinica, Hospital Pediatrico, Centro Hospitalar e 
      Universitario de Coimbra, Coimbra, Portugal. ISNI: 0000000106861985. GRID: 
      grid.28911.33
AD  - University Clinic of Pediatrics and Institute for Biomedical Imaging and Life 
      Science, Faculty of Medicine, University of Coimbra, Coimbra, Portugal. ISNI: 
      0000 0000 9511 4342. GRID: grid.8051.c
FAU - Carreira, Isabel M
AU  - Carreira IM
AD  - Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 
      Coimbra, Portugal. ISNI: 0000 0000 9511 4342. GRID: grid.8051.c
AD  - CNC.IBILI, University of Coimbra, Coimbra, Portugal. ISNI: 0000 0000 9511 4342. 
      GRID: grid.8051.c
AD  - CIMAGO - Centro Investigacao em Meio Ambiente, Genetica e Oncobiologia, Faculty 
      of Medicine, University of Coimbra, Coimbra, Portugal. ISNI: 0000 0000 9511 4342. 
      GRID: grid.8051.c
LA  - eng
PT  - Journal Article
DEP - 20170204
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC5292146
OTO - NOTNLM
OT  - Autism
OT  - Autism spectrum disorders
OT  - Copy number variants
OT  - Genotype
OT  - Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA)
OT  - Multiplex Ligation-dependent Probe Amplification (MLPA)
OT  - Phenotype
EDAT- 2017/02/09 06:00
MHDA- 2017/02/09 06:01
PMCR- 2017/02/04
CRDT- 2017/02/09 06:00
PHST- 2016/09/16 00:00 [received]
PHST- 2017/01/04 00:00 [accepted]
PHST- 2017/02/09 06:00 [entrez]
PHST- 2017/02/09 06:00 [pubmed]
PHST- 2017/02/09 06:01 [medline]
PHST- 2017/02/04 00:00 [pmc-release]
AID - 302 [pii]
AID - 10.1186/s13039-017-0302-z [doi]
PST - epublish
SO  - Mol Cytogenet. 2017 Feb 4;10:2. doi: 10.1186/s13039-017-0302-z. eCollection 2017.