Inherited bone marrow failure syndromes

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  • OKUNO Yusuke
    Center for Advanced Medicine and Clinical Research, Nagoya University Hospital

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Other Title
  • 先天性造血不全症
  • センテンセイ ゾウケツ フゼンショウ

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Abstract

Inherited bone marrow failure syndromes comprise a series of disorders caused by various gene mutations. Genetic tests were formerly difficult to perform because of the large size and number of causative genes. However, recent advances in next-generation sequencing has enabled simultaneous testing of all causative genes to be performed at an acceptable cost. We collaboratively conducted a series of whole-exome sequencing studies of patients with inherited bone marrow failure syndromes and discovered RPS27/RPL27 and FANCT as causative genes of Diamond-Blackfan anemia and Fanconi anemia, respectively. Furthermore, we established a target gene sequencing system to cover 189 genes associated with pediatric blood diseases to assist genetic diagnoses in clinical practice. In this review, discovery of new causative genes and possible roles of next-generation sequencing in the genetic diagnosis of inherited bone marrow failure syndromes are discussed.

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  • Rinsho Ketsueki

    Rinsho Ketsueki 57 (2), 98-103, 2016

    The Japanese Society of Hematology

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