Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients.

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dc.contributor.authorBoggula, Vijay R
dc.contributor.authorShukla, Anju
dc.contributor.authorDanda, Sumita
dc.contributor.authorHariharan, Sankar V
dc.contributor.authorNampoothiri, Sheela
dc.contributor.authorKumar, Rashmi
dc.contributor.authorPhadke, Shubha R
dc.date.accessioned2015-01-14T09:15:58Z
dc.date.available2015-01-14T09:15:58Z
dc.date.issued2014-01
dc.description.abstractBackground & 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 fl uorescence 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.en_US
dc.identifier.citationBoggula Vijay R, Shukla Anju, Danda Sumita, Hariharan Sankar V, Nampoothiri Sheela, Kumar Rashmi, Phadke Shubha R. Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients. Indian Journal of Medical Research. 2014 Jan; 139(1): 66-75.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/155129
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994742/en_US
dc.subjectCommon microdeletion/microduplication syndromesen_US
dc.subjectdevelopmental delayen_US
dc.subjectintellectual disabilityen_US
dc.subjectIndiaen_US
dc.subjectMLPAen_US
dc.subjectsubtelomeric abnormalitiesen_US
dc.titleClinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients.en_US
dc.typeArticleen_US
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