期刊
BLOOD
卷 124, 期 18, 页码 2867-2871出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2014-08-591370
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- Canadian Institutes of Health Research (CIHR)
- Natural Sciences and Engineering Research Council of Canada (NSERC)
- CIHR
- NSERC
- Cancer Research Society
- Academic Health Sciences Centre Innovation fund
- Ontario Ministry of Health and Long Term Care Fund
- National Institutes of Health [R01 DK087992]
- National Institute for Social Care and Health Research Fellowship
- Llandough Haematology Development Fund
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 enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs. Using budding yeast lacking the TRNT1 homolog, CCA1, we confirm that the patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy.
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