Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: report of a novel mutation

Sánchez-López, Josefina Yoaly; Camacho-Torres, Ana Luisa; Ibarra, B; Tintos, Jesús A.; Perea, F.

doi:10.1590/s1415-47572009005000109

Cited by 8 publications

(3 citation statements)

References 18 publications

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“…Knockdown of alncRNA-EC7 was associated with an 80% decrease in Band 3 gene mRNA expression and severely impaired erythrocyte maturation, inhibiting cell size reduction and subsequent enucleation (Alvarez-Dominguez et al, 2014). As SLC4A1 gene is mutated in hereditary hemolytic anemias, this data predicts that alncRNA-EC7 is a novel disease-relevant locus (Sánchez-López et al, 2010).…”

Section: The Role Of Individual Lncrnas In Erythroid Maturationmentioning

confidence: 87%

A regulatory function of long non-coding RNAs in red blood cell development

Kulczyńska¹,

Siatecka

2017

Acta Biochim Pol

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In recent years it has been discovered that long non-coding RNAs are important regulators in many biological processes. In this review, we summarize the role of lncRNA in erythropoiesis. lncRNA are crucial for regulation of gene expression during both, proliferation and differentiation stages of red blood cell development. Many are regulated by erythroid-specific transcription factors and some are expressed in a developmental stage-specific manner. The majority of individually studied lncRNAs are involved in regulating the terminal maturation stages of red cell differentiation. Their regulatory function is accomplished by various mechanisms, including direct regulation in cis or trans by the lncRNA product or by the cis-localized presence of the lncRNA transcription itself. These add additional levels of regulation of gene expression during erythropoiesis.

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Section: The Role Of Individual Lncrnas In Erythroid Maturationmentioning

confidence: 87%

A regulatory function of long non-coding RNAs in red blood cell development

Kulczyńska¹,

Siatecka

2017

Acta Biochim Pol

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“…Our case had a novel pathological mutation in the SLC4A1 gene of HS [ 11 ]. To our knowledge, it is the first time this new mutation is reported in the medical literature, with few cases reporting different novel mutations causing HS.…”

Section: Discussionmentioning

confidence: 99%

A Child With Hereditary Spherocytosis Associated With Von Willebrand’s Disease: A Case Report From Saudi Arabia

Zolaly¹,

Alemam²,

Kheder³

et al. 2022

Cureus

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Von Willebrand disease (VWD) is an autosomal inherited hemostasis disorder caused by a deficiency or defect in the blood protein known as von Willebrand factor, which is necessary for platelets to adhere to damaged vessel walls. The main symptoms of the condition include spontaneous bleeding from mucosal membranes, excessive wound bleeding, and menorrhagia in girls. On the other hand, hereditary spherocytosis (HS) is a heterogeneous group of diseases that damage red blood cells, with clinical manifestations depending on the different membrane protein-encoding gene mutations, their different functional consequences, and the mechanism of inheritance. It is typically characterized by the presence of jaundice, anemia, and splenomegaly. Here, we report a novel pathogenic mutation in a child with HS that led to hemolytic anemia since the age of two years associated with recently discovered type 1 VWD, as we were unable to find any cases that have been previously reported to have HS associated with VWD. According to our analysis of the literature, there is no definitive link between the two hematological disorders.

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“…The SLC4A1 (solute carrier family 4, anion exchanger, member 1) gene contains 20 exons and encodes both erythroid and kidney isoforms of anion exchanger 1. The N-terminal 40kDa domain is located in the cytoplasm and functions as a binding site for the red cytoskeleton through its interactions with transmembrane proteins (28). The C-terminal domain contains the binding sites for carbonic anhydrase II and is responsible for anion exchange.…”

Section: Discussionmentioning

confidence: 99%

Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

Kocaaga

ÇAKMAK

2022

Batı Karadeniz Tıp Dergisi

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Aim: Hereditary spherocytosis (HS) is a prevalent cause of congenital hemolytic anemia in Northern Europeans. It is characterized by spherocytes resulting from defects in the erythrocyte structural membrane proteins spectrin and ankyrin. To date, more than five candidate genes, including ANK1, SPTB, SPTA1, SLC4A1, and EPB42 have been linked to HS. Here, we aim to investigate the presence of novel as well as known mutations in eight Turkish children with clinically suspected HS. Material and Methods: We presented the clinical features of the patients and identified the causative gene variants using targeted exome sequencing. Eight children who were clinically suspected of having HS enrolled in this study. A family and medical history, clinical examination, relevant laboratory test results, osmotic fragility test (OFT), and genetic results were evaluated. Results: Six causative variants, including three ANK1 variants, two SPTB variants and one SLC4A1 variant were detected. All these mutations were novel variants. ANK1 and SPTB are the most common mutant genes in children with HS. Conclusion: This study expanded the mutation spectrum of ANK1, SPTB and SLC4A1. This is the first study to determine the genetic and clinical characteristics of children with HS in Turkey.

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Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: report of a novel mutation

Cited by 8 publications

References 18 publications

A regulatory function of long non-coding RNAs in red blood cell development

A regulatory function of long non-coding RNAs in red blood cell development

A Child With Hereditary Spherocytosis Associated With Von Willebrand’s Disease: A Case Report From Saudi Arabia

Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

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