A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period

Gundel, Florian; Eber, Stefan; Heep, Axel

doi:10.1007/s00277-010-0989-y

Cited by 12 publications

(7 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Abnormalities of protein 4.1R are much less common than spectrin mutations in the etiology of HE. Partial deficiency of protein 4.1R is associated with mild, dominant HE . In patients with severely dysfunctional spectrin mutations, the weakened spectrin dimer–dimer self‐association disrupts the skeletal lattice, leading to a marked skeletal instability and cell fragments.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis

Demiralp

Peker

Turgut

et al. 2012

Proteomics Clinical Apps

View full text Add to dashboard Cite

Purpose Sodium dodecyl sulphate‐polyacrylamide gel electrophoresis (1DE) may reveal qualitative or quantitative defects in red blood cell (RBC) membrane proteins, two‐dimensional gel electrophoresis (2DE) can be used for determination of the protein changes caused by the disease process in a relatively high‐throughput manner, because it permits an analysis of thousands of modified or unmodified proteins simultaneously. The principal aim of this study was to compare hereditary elliptocytosis (HE), hereditary spherocytosis (HS), and control RBC membrane protein profiles and identify proteins as a clinical marker by the sensitive methods. Experimental design RBC membrane proteins of HE, HS, and control groups were compared by 2DE and matrix‐assisted laser desorption/ionization‐time of flight (MALDI‐TOF) MS analysis was obtained using peptide mass fingerprint for protein identification. Results Twenty proteins were identified with peptide mass fingerprint analysis and different expression levels were found in HE, HS, and controls for some proteins that includes three biomarker proteins (ankyrin, spectrin, band 3) that may have prognostic or predictive importance. Conclusions and clinical relevance 2DE of RBC proteins is a potentially valuable method for studying heritable disorders such as HE and HS. By identifying a deficiency in membrane proteins associated with the RBC cytoskeleton, the diagnosis of HE and HS can be confirmed.

show abstract

Section: Introductionmentioning

confidence: 99%

Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis

Demiralp

Peker

Turgut

et al. 2012

Proteomics Clinical Apps

View full text Add to dashboard Cite

show abstract

“…The genetic pattern of most HS patients with ANK1 mutations is autosomal dominant, but autosomal recessive inheritance has occurred in several such patients. Mutations in ANK1 are unique to an individual or an entire kindred [2, 10, 11], and common mutation sites in a family can be inherited. Miya et al [12] identified a 3.7-Mb deletion from 8p11.2 in a 19-month-old HS patient with Kallmann syndrome; the deleted region included ANK1 , but no mutation was found in any exons of ANK1 .…”

Section: Molecular Genetic Mechanisms Of Five Hs-related Genesmentioning

confidence: 99%

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Liao

Deng

et al. 2018

Acta Haematol

View full text Add to dashboard Cite

With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS. Here, we reviewed the recent proposed molecular genetic mechanisms of HS.

show abstract

“…The research indicates that the sites related to HS gene mutation are mainly located in the following genes: ANKl, SPTB, SPTA1, EPB42, and SLC4A1. Among them, the most common type of mutation is ANK1 mutation, which accounts for about 50% of all HS gene mutation types (19)(20)(21), followed by SLC4Al and SPTB locus mutations (22,23).There are few related studies on HS gene in China, Most studies are case reports and lack of large sample studies (24)(25)(26). It is also rare research and large-scale studies on children's ANK1 gene in other countries (7).The 12 ANK1 mutation found in this study are all mutations unreported.…”

Section: Discussionmentioning

confidence: 99%

Clinical manifestations and phenotypic analysis of new ANK1 gene mutations in 12 Chinese children with hereditary spherocytosis

Xie

Lei

Cai

et al. 2019

Preprint

View full text Add to dashboard Cite

2【Abstract】Objective To summarize the clinical features and laboratory examination of ANK1 gene in 12 children with hereditary spherocytosis in China, and to determine the genetic mutations in those children. Methods The clinical data of children and their parents were collected and analyzed. The sequence of related genes was analyzed by second-generation sequencing technology. The suspected pathogenic mutations were detected by Sanger sequencing. Results New mutations in the coding region of ANK1 was detected in 12 patients, which caused amino acid changes in the gene encoding, causing structural changes or loss of function. 4739A>G) mutations in the coding region of the gene are the cause of suspicious disease in these 12 Chinese children. At the same time, second-generation gene sequencing technology is an effective means of confirming HS. Different types of mutations (P=0.388)and different mutation areas (P=0.660)had no significant effect on the severity of anemia. The 12 gene mutation sites in this study have not been included in the human genome database, dbSNP (v138) and ExAC databases. The new ANK1 gene mutations found in HS children can provide further exploration of the genetic etiology of HS in Chinese population.

show abstract

A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period

Abstract: International audienc

Cited by 12 publications

References 7 publications

Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis

Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Clinical manifestations and phenotypic analysis of new ANK1 gene mutations in 12 Chinese children with hereditary spherocytosis

Contact Info

Product

Resources

About