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1996 2
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Page 1
Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.
He BJ, Liao L, Deng ZF, Tao YF, Xu YC, Lin FQ. He BJ, et al. Acta Haematol. 2018;139(1):60-66. doi: 10.1159/000486229. Epub 2018 Jan 22. Acta Haematol. 2018. PMID: 29402830 Free article. Review.
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 …
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-relat …
Genotype-phenotype correlation in children with hereditary spherocytosis.
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD. Tole S, et al. Br J Haematol. 2020 Nov;191(3):486-496. doi: 10.1111/bjh.16750. Epub 2020 May 20. Br J Haematol. 2020. PMID: 32436265 Free article.
In 160/166 (97%) children with HS a disease-causing mutation was identified. Pathogenic variants in ANK1, SPTB, SLC4A1 and SPTA1 were found in 49%, 33%, 13% and 5% of patients. ...Patients with ANK1 and SPTB variants showed a similar clinical phenotype. Withi …
In 160/166 (97%) children with HS a disease-causing mutation was identified. Pathogenic variants in ANK1, SPTB, SLC4A1 and SPTA1 …
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J, Jeong DC, Yoo J, Jang W, Chae H, Kim J, Kwon A, Choi H, Lee JW, Chung NG, Kim M, Kim Y. Park J, et al. Clin Genet. 2016 Jul;90(1):69-78. doi: 10.1111/cge.12749. Epub 2016 Mar 15. Clin Genet. 2016. PMID: 26830532
Twenty-five HS patients carried one heterozygous mutation of ANK1 (n = 13) or SPTB (n = 12) but not in SPTA1, SLC4A1, or EPB42. Deleterious mutations including frameshift, nonsense, and splice site mutations were identified in 91% (21/23), and non-hotspot mutations …
Twenty-five HS patients carried one heterozygous mutation of ANK1 (n = 13) or SPTB (n = 12) but not in SPTA1, SLC4A1, or EPB42 …
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.
Yang L, Shu H, Zhou M, Gong Y. Yang L, et al. Clin Genet. 2022 Dec;102(6):474-482. doi: 10.1111/cge.14223. Epub 2022 Sep 26. Clin Genet. 2022. PMID: 36071563 Review.
Recently, next-generation sequencing (NGS) techniques have shown tremendous potential in the diagnosis of HS. HS commonly originates from variants in ANK1, SPTB, SLC4A1, SPTA1, and EPB42. This review is focused on 13 previous clinical studies on genotype-phenotype c …
Recently, next-generation sequencing (NGS) techniques have shown tremendous potential in the diagnosis of HS. HS commonly originates from va …
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM; Undiagnosed Diseases Network; Yang Y, Posey JE, Lee BH. Rosenfeld JA, et al. Am J Med Genet A. 2021 Jul;185(7):2037-2045. doi: 10.1002/ajmg.a.62201. Epub 2021 Apr 13. Am J Med Genet A. 2021. PMID: 33847457
Spectrins are assembled from alpha and beta subunits, encoded by SPTA1 and SPTAN1 (alpha) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (beta). Pathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and …
Spectrins are assembled from alpha and beta subunits, encoded by SPTA1 and SPTAN1 (alpha) and SPTB, SPTBN1, SPTBN2, SPTBN4, an …
Genotype-degree of hemolysis correlation in hereditary spherocytosis.
Shi Y, Li Y, Yang X, Li X, Peng G, Zhao X, Liu X, Zhao Y, Hu J, Hu X, Zhang B, Zhou K, Yang Y, Xiong Y, Li J, Fan H, Yang W, Ye L, Jing L, Zhang L, Zhang F. Shi Y, et al. BMC Genomics. 2023 Jun 6;24(1):304. doi: 10.1186/s12864-023-09364-8. BMC Genomics. 2023. PMID: 37280519 Free PMC article.
In terms of the composition of mutated genes, 25% of patients with mild hemolysis carried ANK1 or SPTA1 mutations, while 75% of patients with mild hemolysis carried SPTB or SLC4A1 mutations. In contrast, 46.7% of patients with severe hemolysis had ANK1 or SPTA1 …
In terms of the composition of mutated genes, 25% of patients with mild hemolysis carried ANK1 or SPTA1 mutations, while 75% of patie …
Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.
Ittiwut C, Natesirinilkul R, Tongprasert F, Sathitsamitphong L, Choed-Amphai C, Fanhchaksai K, Charoenkwan P, Suphapeetiporn K, Shotelersuk V. Ittiwut C, et al. Br J Haematol. 2019 May;185(3):578-582. doi: 10.1111/bjh.15559. Epub 2018 Sep 10. Br J Haematol. 2019. PMID: 30198572 Free article. No abstract available.
Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
Anil More T, Kedar P. Anil More T, et al. Gene. 2022 Nov 15;843:146796. doi: 10.1016/j.gene.2022.146796. Epub 2022 Aug 9. Gene. 2022. PMID: 35961434
The principal defect in HE and HPP is due to dysfunction or deficiency of RBC cytoskeletal proteins namely, alpha-spectrin (SPTA1), beta-spectrin (SPTB) and protein 4.1R (EPB41R). This study reports the genetic and phenotypic heterogeneity of 10 Indian patients (5 w …
The principal defect in HE and HPP is due to dysfunction or deficiency of RBC cytoskeletal proteins namely, alpha-spectrin (SPTA1), b …
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S, Risinger M, Sakthivel H, Niss O, Rothman JA, Hsieh L, Chou ST, Kwiatkowski JL, Khandros E, Gorman MF, Wells DT, Maghathe T, Dagaonkar N, Seu KG, Zhang K, Zhang W, Kalfa TA. Chonat S, et al. Front Physiol. 2019 Jul 3;10:815. doi: 10.3389/fphys.2019.00815. eCollection 2019. Front Physiol. 2019. PMID: 31333484 Free PMC article.
Patients with HS have defects in the genes coding for ankyrin (ANK1), band 3 (SLC4A1), protein 4.2 (EPB42), and alpha (SPTA1) or beta-spectrin (SPTB). Severe recessive HS is most commonly due to biallelic SPTA1 mutations. alpha-spectrin is produced in excess …
Patients with HS have defects in the genes coding for ankyrin (ANK1), band 3 (SLC4A1), protein 4.2 (EPB42), and alpha (SPTA1) or beta …
Variations in both alpha-spectrin (SPTA1) and beta-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM. Christensen RD, et al. Neonatology. 2014;105(1):1-4. doi: 10.1159/000354884. Epub 2013 Oct 31. Neonatology. 2014. PMID: 24193021
Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Analysis of the alpha-spectrin gene (SPTA1) in the proband revealed two previously reported low-frequency heterozygous polymorphisms of unknown clinical significance and the alpha(LELY) allele. In addi …
Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Analysis of the alpha-spectrin gene (SPTA1) in the proband re …
59 results