Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

@article{Chakraborty2014MutationsIT,
  title={Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).},
  author={Pranesh K. Chakraborty and Klaus Schmitz-Abe and Erin K. Kennedy and Hapsatou Mamady and Turaya Naas and Danielle Durie and Dean R Campagna and Ashley Lau and Anoop K Sendamarai and Daniel Howard Wiseman and Alison May and Stephen Jolles and Philip M. Connor and Colin Powell and Matthew M Heeney and Patricia-Jane Giardina and Robert J. Klaassen and Caroline Kannengiesser and Isabelle Thuret and Alexis A Thompson and Laura Marqu{\'e}s and Stephen L Hughes and Denise K. Bonney and Sylvia S. Bottomley and Robert Francis Wynn and Ronald M. Laxer and Caterina P Minniti and J Moppett and Victoria Bordon and Michael T. Geraghty and Paul B. M. Joyce and Kyriacos Markianos and Adam D Rudner and Martin Holcik and Mark D Fleming},
  journal={Blood},
  year={2014},
  volume={124 18},
  pages={2867-71}
}
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding… CONTINUE READING
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