title: Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
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.
authors.affiliation: Department of Clinical and Molecular Medicine, "Sapienza" University of Roma, Italy. Electronic address: maria.piane@uniroma1.it.
authors.forename: Maria
authors.initials: M
authors.lastname: Piane
authors.affiliation: Unit of Child Neurology and Psychiatry, Spedali Civili and University of Brescia, Brescia, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Molinaro
authors.affiliation: Department of Pediatrics, Spedali Civili and University of Brescia, Brescia, Italy.
authors.forename: Annarosa
authors.initials: A
authors.lastname: Soresina
authors.affiliation: Unit of Child Neurology and Psychiatry, Spedali Civili and University of Brescia, Brescia, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Costa
authors.affiliation: Department of Pediatrics, Spedali Civili and University of Brescia, Brescia, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Maffeis
authors.affiliation: Department of Clinical and Molecular Medicine, "Sapienza" University of Roma, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Germani
authors.affiliation: Department of Neuroradiology, Spedali Civili, Brescia, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pinelli
authors.affiliation: Department of Ecological and Biological Sciences, University of Tuscia, Viterbo, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Meschini
authors.affiliation: Department of Pediatrics, Spedali Civili and University of Brescia, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
authors.affiliation: Department of Clinical and Molecular Medicine, "Sapienza" University of Roma, Italy.
authors.forename: Luciana
authors.initials: L
authors.lastname: Chessa
authors.affiliation: Unit of Child Neurology and Psychiatry, Spedali Civili and University of Brescia, Brescia, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Micheli
mesh_terms: D001254:Astrocytoma / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D001260:Ataxia Telangiectasia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D002545:Brain Ischemia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D002460:Cell Line; D002528:Cerebellar Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D002648:Child; D005260:Female; D005910:Glioma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense
chemical_list: C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins
keywords: ATM gene; Ataxia-Telangiectasia; Ischemic stroke; Low-grade cerebellar astrocytoma