Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association

Sharon McDonald, David B. Wilson, Elena Pumbo, Shashikant Kulkarni, Philip J. Mason, Tobias Else, Monica Bessler, Thomas Ferkol, Shalini Shenoy

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, Tpp1, have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association.

Original languageEnglish
Pages (from-to)154-157
Number of pages4
JournalPediatric Blood and Cancer
Volume54
Issue number1
DOIs
StatePublished - Jan 2010

Keywords

  • Adrenal cortex
  • Dyskeratosis congenita
  • Myelodysplasia
  • Shelterin
  • Telomere

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