Abstract:
:The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance.
journal_name
Bloodjournal_title
Bloodauthors
Schmitz-Abe K,Ciesielski SJ,Schmidt PJ,Campagna DR,Rahimov F,Schilke BA,Cuijpers M,Rieneck K,Lausen B,Linenberger ML,Sendamarai AK,Guo C,Hofmann I,Newburger PE,Matthews D,Shimamura A,Snijders PJ,Towne MC,Niemeyer CM,doi
10.1182/blood-2015-09-659854subject
Has Abstractpub_date
2015-12-17 00:00:00pages
2734-8issue
25eissn
0006-4971issn
1528-0020pii
blood-2015-09-659854journal_volume
126pub_type
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