Congenital sideroblastic anaemia with a novel frameshift mutation in<i>SLC25A38</i>

Wong, Wai‐Shan; Wong, Hung-fan; Cheng, Chi‐Keung; Chang, Kai-on; Chan, Natalie Pui-Ha; Ng, Margaret H.L.; Wong, K. F.

doi:10.1136/jclinpath-2014-202211

Cited by 11 publications

(13 citation statements)

References 13 publications

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“…On the basis of structural similarity with other SLC25 proteins, SLC25A38 is predicted to transport glycine into the mitochondrial matrix for condensation with succinyl-coenzyme A to form 5-aminolevulinic acid, which is exported to the cytoplasm for haem synthesis. 79,80 Only a few of the trans-mediated genes have been shown to play important roles in adipocytes. For example, ESRRA encodes estrogen-related receptor alpha, which modulates the expression of adipogenesis genes during adipocyte differentiation.…”

Section: à5mentioning

confidence: 99%

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

Civelek

Pan

et al. 2017

The American Journal of Human Genetics

152

211

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Subcutaneous adipose tissue stores excess lipids and maintains energy balance. We performed expression quantitative trait locus (eQTL) analyses by using abdominal subcutaneous adipose tissue of 770 extensively phenotyped participants of the METSIM study. We identified cis-eQTLs for 12,400 genes at a 1% false-discovery rate. Among an approximately 680 known genome-wide association study (GWAS) loci for cardio-metabolic traits, we identified 140 coincident cis-eQTLs at 109 GWAS loci, including 93 eQTLs not previously described. At 49 of these 140 eQTLs, gene expression was nominally associated (p < 0.05) with levels of the GWAS trait. The size of our dataset enabled identification of five loci associated (p < 5 3 10 À8 ) with at least five genes located >5 Mb away. These trans-eQTL signals confirmed and extended the previously reported KLF14-mediated network to 55 target genes, validated the CIITA regulation of class II MHC genes, and identified ZNF800 as a candidate master regulator. Finally, we observed similar expression-clinical trait correlations of genes associated with GWAS loci in both humans and a panel of genetically diverse mice. These results provide candidate genes for further investigation of their potential roles in adipose biology and in regulating cardio-metabolic traits.

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Section: à5mentioning

confidence: 99%

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

Civelek

Pan

et al. 2017

The American Journal of Human Genetics

152

211

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“…Among the nonsyndromic types of CSA so far characterized, the autosomal recessive form due to molecular defects in the glycine transporter SLC25A38 is most common in occurrence after X‐linked sideroblastic anemia . To date, biallelic mutations in the SLC25A38 gene associated with CSA have been reported in at least 40 probands or families . Most mutations are severe or complete loss‐of‐function mutations.…”

Section: Discussionmentioning

confidence: 99%

“…2 To date, biallelic mutations in the SLC25A38 gene associated with CSA have been reported in at least 40 probands or families. [7][8][9][10][11][12] Most mutations are severe or complete loss-of-function mutations. Severe anemia is typically found at birth or in early childhood and requires lifelong transfusions.…”

Section: Discussionmentioning

confidence: 99%

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Kim

Shah

Bottomley

et al. 2018

Clinical Case Reports

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“…Thus, a loss-of-function mutation of the SLC25A38 gene should cause pyridoxinerefractory autosomal recessive congenital sideroblastic anemia [46]. Several missense, nonsense, and frame shift mutations of the SCL25A38 gene have been reported [46,[85][86][87][88].…”

Section: Sidba2; Mutation Of Slc25a38mentioning

confidence: 99%

Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia

Furuyama

Kaneko

2017

Int J Hematol

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Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient's bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however, the relationship between the function of the gene products and ring sideroblasts is largely unclear. In this review article, we will focus on the iron metabolism in erythroid cells as well as in patients with congenital sideroblastic anemia.

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Congenital sideroblastic anaemia with a novel frameshift mutation inSLC25A38

Cited by 11 publications

References 13 publications

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia

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