PMID- 33062692
OWN - NLM
STAT- MEDLINE
DCOM- 20210510
LR  - 20220417
IS  - 2314-6141 (Electronic)
IS  - 2314-6133 (Print)
VI  - 2020
DP  - 2020
TI  - Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as 
      an Alternative Diagnostic Method.
PG  - 6945730
LID - 10.1155/2020/6945730 [doi]
LID - 6945730
AB  - BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) is the most common form of 
      deletion disorder in humans. Low copy repeats flanking the 22q11.2 region confers 
      a substrate for nonallelic homologous recombination (NAHR) events leading to 
      rearrangements which have been reported to be associated with highly variable and 
      expansive phenotypes. The 22q11.2DS is reported as the most common genetic cause 
      of congenital heart defects (CHDs). METHODS: A total of 42 patients with 
      congenital heart defects, as confirmed by echocardiography, were recruited. 
      Genetic molecular analysis using a fluorescence in situ hybridization (FISH) 
      technique was conducted as part of routine 22q11.2DS screening, followed by 
      multiplex ligation-dependent probe amplification (MLPA), which serves as a 
      confirmatory test. RESULTS: Two of the 42 CHD cases (4.76%) indicated the 
      presence of 22q11.2DS, and interestingly, both cases have conotruncal heart 
      defects. In terms of concordance of techniques used, MLPA is superior since it 
      can detect deletions within the 22q11.2 locus and outside of the typically 
      deleted region (TDR) as well as duplications. CONCLUSION: The incidence of 
      22q11.2DS among patients with CHD in the east coast of Malaysia is 0.047. MLPA is 
      a scalable and affordable alternative molecular diagnostic method in the 
      screening of 22q11.2DS and can be routinely applied for the diagnosis of deletion 
      syndromes.
CI  - Copyright (c) 2020 Sathiya Maran et al.
FAU - Maran, Sathiya
AU  - Maran S
AUID- ORCID: 0000-0001-5617-901X
AD  - Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, 16150 
      Kubang Kerian, Kelantan, Malaysia.
AD  - School of Pharmacy, Monash University, Jalan Lagoon Selatan 47500 Bandar Sunway 
      Selangor Darul Ehsan, Malaysia.
FAU - Faten, Siti Aisyah
AU  - Faten SA
AUID- ORCID: 0000-0002-2454-493X
AD  - Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, 16150 
      Kubang Kerian, Kelantan, Malaysia.
FAU - Lim, Swee-Hua Erin
AU  - Lim SE
AD  - Health Sciences Division, Abu Dhabi Women's College, Higher Colleges of 
      Technology, 41012 Abu Dhabi, UAE.
FAU - Lai, Kok-Song
AU  - Lai KS
AD  - Health Sciences Division, Abu Dhabi Women's College, Higher Colleges of 
      Technology, 41012 Abu Dhabi, UAE.
FAU - Ibrahim, Wan Pauzi Wan
AU  - Ibrahim WPW
AD  - Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, 
      16150 Kubang Kerian, Kelantan, Malaysia.
AD  - Faculty of Medicine and Health Sciences, Universiti Sultan Zainal Abidin, 20400 
      Kuala Terengganu, Terengganu, Malaysia.
FAU - Ankathil, Ravindran
AU  - Ankathil R
AUID- ORCID: 0000-0003-3080-415X
AD  - Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, 16150 
      Kubang Kerian, Kelantan, Malaysia.
FAU - Gan, Siew Hua
AU  - Gan SH
AUID- ORCID: 0000-0001-6470-3651
AD  - School of Pharmacy, Monash University, Jalan Lagoon Selatan 47500 Bandar Sunway 
      Selangor Darul Ehsan, Malaysia.
FAU - Tan, Huay Lin
AU  - Tan HL
AUID- ORCID: 0000-0002-6670-2668
AD  - Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, 16150 
      Kubang Kerian, Kelantan, Malaysia.
LA  - eng
PT  - Journal Article
DEP - 20200928
PL  - United States
TA  - Biomed Res Int
JT  - BioMed research international
JID - 101600173
SB  - IM
MH  - DiGeorge Syndrome/*diagnosis/epidemiology/*genetics
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Incidence
MH  - Infant, Newborn
MH  - Malaysia
MH  - Male
MH  - Molecular Diagnostic Techniques/*methods
MH  - Multiplex Polymerase Chain Reaction/*methods
MH  - Pilot Projects
PMC - PMC7539069
COIS- The authors declare that they have no conflict of interest.
EDAT- 2020/10/17 06:00
MHDA- 2021/05/11 06:00
PMCR- 2020/09/28
CRDT- 2020/10/16 05:56
PHST- 2020/04/28 00:00 [received]
PHST- 2020/06/06 00:00 [accepted]
PHST- 2020/10/16 05:56 [entrez]
PHST- 2020/10/17 06:00 [pubmed]
PHST- 2021/05/11 06:00 [medline]
PHST- 2020/09/28 00:00 [pmc-release]
AID - 10.1155/2020/6945730 [doi]
PST - epublish
SO  - Biomed Res Int. 2020 Sep 28;2020:6945730. doi: 10.1155/2020/6945730. eCollection 
      2020.