Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing
Author:
Funder
Ministry of Education and Science of the Republic of Kazakhstan
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
http://link.springer.com/content/pdf/10.1007/s12185-019-02630-0.pdf
Reference18 articles.
1. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411–26.
2. Park J, Jeong DC, Yoo J, Jang W, Chae H, Kim J, et al. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. Clin Genet. 2016;90:69–78.
3. Hassoun H, Vassiliadis JN, Murray J, Yi SJ, Hanspal M, Ware RE, et al. Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. J Clin Invest. 1995;96:2623–9.
4. Lybaek H, Oyen N, Fauske L, Houge G. A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties. Clin Genet. 2008;74:553–9.
5. Griswold AJ, Ma D, Sacharow SJ, Robinson JL, Jaworski JM, Wright HH, et al. A de novo 1.5 Mb microdeletion on chromosome 14q23.2–23.3 in a patient with autism and spherocytosis. Autism Res. 2011;4:221–7.
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1. A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants;BMC Medical Genomics;2024-08-12
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3. Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?;Psychiatric Genetics;2024-04-20
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