A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1,Cancer Genetics

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A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1
Cancer Genetics ( IF 1.4 ) Pub Date : 2021-07-20 , DOI: 10.1016/j.cancergen.2021.07.001
Nabhajit Mallik ₁ , Namrata Singh ₁ , Manu Jamwal ₁ , Sanjeev Chhabra ₁ , Jasbir Kaur Hira ₁ , Pankaj Malhotra ₂ , Reena Das ₁ , Prashant Sharma ₁

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A 60-year-old male with myelodysplastic syndrome with excess blasts-I had unexplained microcytic hypochromic anemia. This was revealed on supravital staining, hemoglobin studies and next-generation sequencing to be caused by a novel hemizygous potentially pathogenic missense/splice site variant NM_000489.5:c.6848A>C, (p.Lys2283Thr) in exon 31 of the ATRX gene.

中文翻译：

一种新的 ATRX 剪接变体在骨髓增生异常综合征中引起获得性 HbH 疾病并伴有过量原始细胞 1

一名 60 岁男性，患有骨髓增生异常综合征伴原始细胞过多-I，患有无法解释的小细胞低色素性贫血。这在超活体染色、血红蛋白研究和下一代测序中发现是由ATRX基因外显子 31 中的一种新的半合子潜在致病错义/剪接位点变异 NM_000489.5:c.6848A>C (p.Lys2283Thr) 引起的.

更新日期：2021-07-20

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