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<p><b>INTRODUCTION</b>Sporadic clinical episodes of malignant hyperthermia (MH) that develop during general anaesthesia (GA) have been reported in Singapore. However, there is no published local report of a confirmed case of MH susceptibility (MHS) by skeletal muscle contracture tests and/or molecular tests.</p><p><b>MATERIALS AND METHODS</b>We report 2 patients from an extended family who developed signs of clinical MH while under GA. The MH episodes were successfully treated with intravenous dantrolene sodium. Sequence analysis of the entirecoding gene was carried out in an index patient.</p><p><b>RESULTS</b>The index patient was found to carry a c.7373G>A (p.Arg2458His) mutation in exon 46. This particular mutation satisfies the criteria for a MHS causative mutation. Hence, the index patient was considered to be MHS and did not need to undergo further muscle contracture testing. The same mutation was also found in 3 other members of his extended family.</p><p><b>CONCLUSION</b>This is the first report of a Singaporean family with at least 4 members carrying a MH-causative mutation ingene. This report serves to highlight the existence of the putative gene for MH in Singapore, and the need for clinical vigilance during anaesthesia involving the use of triggering agents.</p>
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Identification of mutations in G6PD gene is performed as an epidemiologic investigation of G6PD deficiency in many countries. In order to understand the hereditary background of G6PD deficiency in a population, screening of mutations is required not only in exonic regions but also for intron and promoter regions. One hundred male neonatal samples diagnosed as with G6PD deficiency by newborn screening in Singapore were used in this study. The multiplex PCR using the multiple tandem forward primers and common reverse primer (MPTP) method was carried out to detect the common 11 mutations in south-east Asia such as Gaohe 95A>G, Orissa 131C>G, Vanua-Lava 383T>C, Mahidol 487G>A, Mediterranean 563C>T, Coimbra 592C>T, Viangchan 871G>A, Chatham 1003G>A, Union 1360C>T, Canton 1376G>T and Kaiping 1388G>A. Samples whose mutations were unidentified by MPTP method were scanned at cording region, intron and promoter region by direct sequencing.Out of 100 samples, 90 samples (90.0%) were identified with one of the above mentioned common mutations. Eight out of 10 samples whose mutations were unidentified by MPTP method carried exonic mutations which had been previously reported such as Murcia 209A>G, Quing Yuan 392G>T, Nankang 517T>C, Chinese5 1024C>T. Two novel mutations were identified in these samples: one had a novel mutation (25C>T); the remaining sample carried a 49 bp deletion in intron 12.