본문 바로가기
KERD
논문KCI 등재

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing

0

조회

0

다운로드

0

인용

0

참고문헌

주제분류병리학

초록

Hereditary sideroblastic anemia (SA) is characterized by anemia with ringed sideroblasts in the bone marrow (BM) [1]. Phenotypic expression is highly variable, and the most common hereditary SA is X-linked sideroblastic anemia (XLSA, OMIM #300751) caused by mutation of the erythroid-specific δ-aminolevulinate synthase gene, ALAS2 [2-4].

Abstract

Hereditary sideroblastic anemia (SA) is characterized by anemia with ringed sideroblasts in the bone marrow (BM) [1]. Phenotypic expression is highly variable, and the most common hereditary SA is X-linked sideroblastic anemia (XLSA, OMIM #300751) caused by mutation of the erythroid-specific δ-aminolevulinate synthase gene, ALAS2 [2-4].

참고문헌 (11)

  1. Cazzola M, "Ring sideroblasts and sideroblastic anemias", Haematologica, 96, pp.789~792 (2011)[DOI]
  2. Barton JC, "Disparate phenotypic expression of ALAS2 R452H (nt 1407 G<TEX>$\rightarrow$<", TEX>A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma, 2006, pp.36, 342~346
  3. Cazzola M, "Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation", Blood, 100, pp.4236~4238 (2002)[DOI]
  4. Cotter PD, "Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts", J Clin Invest, 96, pp.2090~2096 (1995)[DOI]
  5. Li H, "Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM", arXiv preprint arXiv:1303.3997, ~ (2013)
  6. McKenna A, "The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data", Genome Res, 20, pp.1297~1303 (2010)[DOI]
  7. Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)[DOI]
  8. Harigae H, "Hereditary sideroblastic anemia: pathophysiology and gene mutations", Int J Hematol, 92, pp.425~431 (2010)[DOI]
  9. Fleming MD, "The genetics of inherited sideroblastic anemias", Semin Hematol, 39, pp.270~281 (2002)[DOI]
  10. "The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff"[URL]
  11. Edgar AJ, "X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution", Eur J Haematol, 61, pp.55~58 (1998)

관련 논문AI추천

A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia김지은, 김현경, 문수영, 윤성수, 이승준, 전인재대한진단검사의학회 · Annals of Laboratory Medicine2014 · 제34권 제2호Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients조빈, 김명신, 김용구, 김학기, 박준홍, 이재욱, 임지향, 정낙균, 채효진, 한경자대한진단검사의학회 · Annals of Laboratory Medicine2010 · 제30권 제3호The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia박성섭, 박승만, 박준은, 성문우, 전용범, 조성임대한진단검사의학회 · Annals of Laboratory Medicine2012 · 제32권 제1호The First Korean Family with Hemoglobin-M Milwaukee-2 Leading to Hereditary Methemoglobinemia국훈, 김대성, 김보람, 백희조, 윤보애, 이준형연세대학교의과대학 · Yonsei Medical Journal2020 · 제61권 제12호Identification of a de novo ANK1 Variant in a Patient with Hereditary Spherocytosis on Multi-gene Panel Testing권민정, 박효순, 우희연, 윤수진, 정혜림, 조은혜대한진단검사의학회 · Laboratory Medicine Online2022 · 제12권 제1호Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis김명신, 서병규, 정낙균, 조원경, 채효진, In Ah Jung, Jiyeon Kim대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제2호

이 간행물의 다른 논문 (18건)