GATA1 mutations in a cohort of Malaysian children with Down syndrome-associated myeloid disorder

<p><b>INTRODUCTION</b>Children with Down syndrome (DS) are at increased risk of developing distinctive clonal myeloid disorders, including transient abnormal myelopoiesis (TAM) and myeloid leukaemia of DS (ML-DS). TAM connotes a spontaneously resolving congenital myeloproliferative state observed in 10%-20% of DS newborns. Following varying intervals of apparent remission, a proportion of children with TAM progress to develop ML-DS in early childhood. Therefore, TAM and ML-DS represent a biological continuum. Both disorders are characterised by recurring truncating somatic mutations of the GATA1 gene, which are considered key pathogenetic events.</p><p><b>METHODS</b>We herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malaysian children with DS-associated TAM (n = 9) and ML-DS (n = 24) encountered successively over a period of five years at a national referral centre.</p><p><b>RESULTS</b>Of the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. All identified mutations were located in exon 2 and the majority were sequence-terminating insertions or deletions (66.7%), including several hitherto unreported mutations (12 out of 15).</p><p><b>CONCLUSION</b>The low frequency of GATA1 mutations in ML-DS patients is unusual and potentially indicates distinctive genomic events in our patient cohort.</p>

A new record of Fannia prisca Stein, 1918 (Diptera:Fanniidae) from peninsular Malaysia

Fannia prisca Stein, 1918 is newly recorded from peninsular Malaysia. This record is based on 4 male specimens from Mount Berembun, Brinchang, Cameron Highland, Pahang state, peninsular Malaysia. It is previously recorded from China, Mongolia, Korea, Japan, Taiwan, Bonin Island, Thailand and oriental region. The male of Fannia prisca can be differentiated from male Fannia scalaris by the following features: for F. prisca, mid-coxa without spine; mid-tibia normal or without stout triangular ventral projection; and hind tibia usually with 2 av, while F. scalaris has several stout hook-like spines on the anterior margin; mid-tibia with stout triangular ventral projection and hind tibia usually with 3 av. Both F. prisca and F. scalaris can be differentiated from Fannia leucosticta by looking at its hind tibia, which only has 1 av.