Back to Search Start Over

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

Authors :
Piane M
Molinaro A
Soresina A
Costa S
Maffeis M
Germani A
Pinelli L
Meschini R
Plebani A
Chessa L
Micheli R
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.)

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