Medicine
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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item A Unique syndrome with facial, cranial, dental and skeletal features: possible relationship to maternal chikungunya exposure or an unidentified genetic cause?(Sri Lanka College of Paediatricians, 2015) de Silva, D.; Basnayake, S.; Gunasekara, R.; Smith, J. C.; Donnai, D.; Newman, B.BACKGROUND:Six children from the western province of Sri Lanka, born between June 2007 and November 2008 have presented with a unique phenotype comprising distinctive facial features, skeletal abnormalities and variable intellectual disability. In four children the mother reported a clinical history of chikungunya infection (CHKV) during their first trimester. OBJECTIVE: • Describe the clinical and demographic features of affected cases • Identify a genetic basis using whole exome sequencing (WES) DESIGN, SETTING AND METHOD: Cases were recruited following informed consent from parents. Blood taken for DNA extraction and WES performed using the lllumina HiSeq 2500 platform. Reads were aligned to the human reference sequence hg19 and analysed using bioinformatics software. RESULTS: Four cases were females. Five were Sinhalese, one Tamil. None had parental consanguinity. Four mothers reported first trimester CHKV infection. Distinctive facial features (pinched face, downslanting eyes, turri-brachvcephalv, open mouth, lip retraction, V shaped dental arches and high mandibular angles), restriction of joint movements (small and large joints) and variable developmental delay were present. Review by a panel of experts revealed no syndrome diagnosis WES analysis on five cases did not identify a homozygous or compound heterozygous recessive or de novo dominant mutation of an autosomal gene. CONCLUSIONS: WES analysis did not identify a homozygous or compound heterozygous recessive or de novo dominant mutation of an autosomal gene.Item 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.