Browsing by Author "Dias, D.K."

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Evaluation of 22q11.2 deletion in Cleft Palate patients.
(Mumbai : Medknow Publications, 2012) Prabodha, L.B.; Dias, D.K.; Nanayakkara, B.G.; de Silva, D.C.; Chandrasekharan, N.V.; Ileyperuma, I.
BACKGROUND: Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the clinical features and identify the 22q11.2 deletion in patients with cleft palate in Sri Lanka. MATERIALS AND METHODS: Cleft patients attending a Teaching Hospital in Sri Lanka were recruited for this study. The relevant data were obtained from review of case notes, interviews, and examination of patients according to a standard evaluation sheet. Quantitative multiplex polymerase chain reaction (PCR) was performed to identify the 22q11.2 deletion. A gel documentation system (Bio-Doc) was used to quantify the PCR product following electrophoresis on 0.8% agarose gel. RESULTS AND CONCLUSION: There were 162 cleft palate patients of whom 59% were females. A total of 92 cleft palate subjects (56.2%) had other associated clinical features. Dysmorphic features (25.27%) and developmental delays (25.27%) were the commonest medical problems encountered. The cleft was limited to the soft palate in 125 patients, while in 25 patients it involved both the hard and the soft palate. There were seven subjects with bifid uvula and five subjects with submucous cleft palate. None of the patients had 22q11.2 deletion in this study population. A multicentered large population-based study is needed to confirm the results of this study and to develop guidelines on the appropriate use of 22q11.2deletion testing, which are valid for cleft palate patients in Sri Lanka.
Molecular diagnosis of Velocardiofacial Syndrome in a cohort of Sri Lankan patients
(Sri Lanka Medical Association, 2014) Thevarajan, I.; Ranaweera, D.M.; de Silva, D.; Prabodha, L.B.L.; Gunasekera, R.; Dias, D.K.; Nanayakkara, B.G.; Basnayake, S.; Jayathilake, M.; Chandrasekharan, N.V.
INTRODUCTION AND OBJECTIVES: Velocardiofacial Syndrome (VCFS) is caused by a 3 Mb deletion encompassing around 40 genes on chromosome 22qll.2. It is characterised by variable features including congenital malformations of the palate and heart, growth and developmental delay, immunological anomalies, hypocalcaemia and other problems. Clinical diagnosis is difficult due to its variability within and between families. Early diagnosis enables appropriate management of the affected cases. Objective was to establish a reliable and cost effective molecular diagnostic test for VCFS. METHODS: Nineteen clinically suspected patients with palatal and facial features suggestive of VCFS from Lady Ridgeway Hospital, Colombo and the Teaching hospital, Karapitiya were recruited following informed consent and prior ethical clearance. A semi-quantitative multiplex poiymerase chain reaction (PCR) was established to identify the deletion using dosage analysis. The PCR assay was carried out using DNA from patients (P), unaffected person (N) and a positive control (with a FISH confirmed deletion} using STS markers within the deleted region and CFTR (Cystic Fibrosis Transmembrane Regulatory Conductance) control primers outside the deleted region. Following agarose gel electrophoresis the PCR products were quantified. A ratio of P: N of 0.5 was taken to indicate a deletion while a ratio of 1 indicated absence of the deletion. RESULTS: Among nineteen clinically suspected VCFS cases, five cases had the deletion. CONCLUSIONS: This semi-quantitative PCR assay was able to identify.deletions in clinically suspected patients. However further validation is required before its clinical usage.