Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.

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Tytuł:: Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
Autorzy:: Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey. .
Acar Arslan E; Faculty of Medicine, Department of Child Neurology, Karadeniz Technical University, Trabzon, Turkey.
Erdem HB; Department of Medical Genetics, Ankara Dışkapı Yıldırım Beyazıt Training and Research Hospital, Ankara, Turkey.
Kavus H; Department of Medical Genetics, Gulhane Training and Research Hospital, Ankara, Turkey.
Arslan M; Department of Child Neurology, Gulhane Training and Research Hospital, Ankara, Turkey.
Topaloğlu H; Faculty of Medicine, Department of Child Neurology, Hacettepe University, Ankara, Turkey.
Źródło:: Acta neurologica Belgica [Acta Neurol Belg] 2021 Dec; Vol. 121 (6), pp. 1457-1462. Date of Electronic Publication: 2020 Mar 13.
Typ publikacji:: Case Reports; Journal Article; Review
Język:: English
Imprint Name(s):: Publication: 2012- : Milan : Springer
Original Publication: 1970-2011: Bruxelles : Acta Medica Belgica,
MeSH Terms:: Homozygote*
Exons/*genetics
Gene Duplication/*genetics
Receptors, Glutamate/*genetics
Spinocerebellar Degenerations/*diagnostic imaging
Spinocerebellar Degenerations/*genetics
Adolescent ; Child, Preschool ; Female ; Humans ; Pedigree ; Siblings
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Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G et al (2010) Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics 11(1):1–12. (PMID: 10.1007/s10048-009-0196-y)
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S et al (2016) Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genom 9(1):42. (PMID: 10.1186/s12920-016-0208-3)
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S et al (2015) GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Neurology 84(17):1751–1759. (PMID: 10.1212/WNL.0000000000001524)
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Utine GE, Haliloglu G, Salanci B, Cetinkaya A, Kiper PO, Alanay Y et al (2013) A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J Child Neurol 28(7):926–932. (PMID: 10.1177/0883073813484967)
Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F et al (2015) Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet Med 17(4):291–299. (PMID: 10.1038/gim.2014.95)
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Contributed Indexing:: Keywords: Cerebellar ataxia; GRID2; Homozygote duplication
Substance Nomenclature:: 0 (Receptors, Glutamate)
0 (glutamate receptor delta 2)
SCR Disease Name:: Sensorimotor neuropathy with ataxia, autosomal dominant
Entry Date(s):: Date Created: 20200315 Date Completed: 20220222 Latest Revision: 20220222
Update Code:: 20240105
DOI:: 10.1007/s13760-020-01328-z
PMID:: 32170608
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Autosomal recessive cerebellar ataxias (ARCA) are characterized by the abnormal structure of the cerebellum and spinal cord. Spinocerebellar ataxia type 18 (MIM 616204), one of the ARCA, is caused by the loss-of-function mutations of the GRID2 gene due to deletions. Missense mutations in the GRID2 cause ataxia with the gain-of-function mechanism. We report a homozygous GRID2 duplication in childhood-onset ataxia in two siblings. The clinical exome sequencing was performed on one of the siblings. No disease-causing mutations were reported as a result of the clinical exome test. Chromosomal microarray analysis was performed on the entire family using Affymetrix Optima ® chips. Chromosomal microarray analysis showed a ~ 121-kb homozygous duplication of GRID2 (arr[GRCh37]4q22.2(94426536_94613158) × 4), including exon 14, in both siblings. Previously, GRID2 has been associated with an autosomal recessive (loss-of-function) and autosomal semi-dominant (gain-of-function) forms of ataxia. To the best of our knowledge, this is the first study to identify a homozygous duplication of GRID2 causing loss of function of the GluRD2 protein. These findings provide us with the conclusion that copy number variation analyses should be in the diagnostic process of autosomal recessive ataxia types.
(© 2020. Belgian Neurological Society.)

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