Back to Search
Start Over
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
- Source :
-
Journal of the neurological sciences [J Neurol Sci] 2016 Dec 15; Vol. 371, pp. 48-53. Date of Electronic Publication: 2016 Oct 13. - Publication Year :
- 2016
-
Abstract
- We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed.<br /> (Copyright © 2016 Elsevier B.V. All rights reserved.)
- Subjects :
- Astrocytoma complications
Astrocytoma diagnostic imaging
Astrocytoma surgery
Ataxia Telangiectasia complications
Ataxia Telangiectasia diagnostic imaging
Brain diagnostic imaging
Brain Ischemia complications
Brain Ischemia diagnostic imaging
Cell Line
Cerebellar Neoplasms complications
Cerebellar Neoplasms diagnostic imaging
Cerebellar Neoplasms surgery
Child
Female
Glioma diagnostic imaging
Glioma surgery
Heterozygote
Humans
Mutation, Missense
Astrocytoma genetics
Ataxia Telangiectasia genetics
Ataxia Telangiectasia Mutated Proteins genetics
Brain Ischemia genetics
Cerebellar Neoplasms genetics
Glioma genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-5883
- Volume :
- 371
- Database :
- MEDLINE
- Journal :
- Journal of the neurological sciences
- Publication Type :
- Academic Journal
- Accession number :
- 27871447
- Full Text :
- https://doi.org/10.1016/j.jns.2016.10.014