PMID- 24604040
OWN - NLM
STAT- MEDLINE
DCOM- 20150402
LR  - 20211021
IS  - 0971-5916 (Print)
IS  - 0975-9174 (Electronic)
IS  - 0971-5916 (Linking)
VI  - 139
IP  - 1
DP  - 2014 Jan
TI  - Clinical utility of multiplex ligation-dependent probe amplification technique in 
      identification of aetiology of unexplained mental retardation: a study in 203 
      Indian patients.
PG  - 66-75
AB  - BACKGROUND & OBJECTIVES: Developmental delay (DD)/mental retardation also 
      described as intellectual disability (ID), is seen in 1-3 per cent of general 
      population. Diagnosis continues to be a challenge at clinical level. With the 
      advancement of new molecular cytogenetic techniques such as cytogenetic 
      microarray (CMA), multiplex ligation-dependent probe amplification (MLPA) 
      techniques, many microdeletion/microduplication syndromes with DD/ID are now 
      delineated. MLPA technique can probe 40-50 genomic regions in a single reaction 
      and is being used for evaluation of cases with DD/ID. In this study we evaluated 
      the clinical utility of MLPA techniques with different probe sets to identify the 
      aetiology of unexplained mental retardation in patients with ID/DD. METHODS: A 
      total of 203 randomly selected DD/ID cases with/without malformations were 
      studied. MLPA probe sets for subtelomeric regions (P070/P036) and common 
      microdeletions/microduplications (P245-A2) and X-chromosome (P106) were used. 
      Positive cases with MLPA technique were confirmed using either fluorescence in 
      situ hybridization (FISH) or follow up confirmatory MLPA probe sets. RESULTS: The 
      overall detection rate was found to be 9.3 per cent (19 out of 203). The 
      detection rates were 6.9 and 7.4 per cent for common 
      microdeletion/microduplication and subtelomeric probe sets, respectively. No 
      abnormality was detected with probe set for X-linked ID. The subtelomeric 
      abnormalities detected included deletions of 1p36.33, 4p, 5p, 9p, 9q, 13q 
      telomeric regions and duplication of 9pter. The deletions/duplications detected 
      in non telomeric regions include regions for Prader Willi/Angelman regions, 
      Williams syndrome, Smith Magenis syndrome and Velocardiofacial syndrome. 
      INTERPRETATION & CONCLUSIONS: Our results show that the use of P245-A2 and 
      P070/P036-E1 probes gives good diagnostic yield. Though MLPA cannot probe the 
      whole genome like cytogenetic microarray, due to its ease and relative low cost 
      it is an important technique for evaluation of cases with DD/ID.
FAU - Boggula, Vijay R
AU  - Boggula VR
FAU - Shukla, Anju
AU  - Shukla A
FAU - Danda, Sumita
AU  - Danda S
FAU - Hariharan, Sankar V
AU  - Hariharan SV
FAU - Nampoothiri, Sheela
AU  - Nampoothiri S
FAU - Kumar, Rashmi
AU  - Kumar R
FAU - Phadke, Shubha R
AU  - Phadke SR
AD  - Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical 
      Sciences, Lucknow, India.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - India
TA  - Indian J Med Res
JT  - The Indian journal of medical research
JID - 0374701
SB  - IM
CIN - Indian J Med Res. 2014 Jan;139(1):4-6. PMID: 24604035
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosome Duplication
MH  - Chromosomes, Human, X/genetics
MH  - Developmental Disabilities/diagnosis/*genetics/pathology
MH  - Female
MH  - Genome, Human
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/etiology/*genetics/pathology
MH  - Male
MH  - Multiplex Polymerase Chain Reaction/methods
PMC - PMC3994742
EDAT- 2014/03/08 06:00
MHDA- 2015/04/04 06:00
PMCR- 2014/01/01
CRDT- 2014/03/08 06:00
PHST- 2014/03/08 06:00 [entrez]
PHST- 2014/03/08 06:00 [pubmed]
PHST- 2015/04/04 06:00 [medline]
PHST- 2014/01/01 00:00 [pmc-release]
AID - IndianJMedRes_2014_139_1_66_128319 [pii]
AID - IJMR-139-66 [pii]
PST - ppublish
SO  - Indian J Med Res. 2014 Jan;139(1):66-75.