title: Novel ATM mutations with ataxia-telangiectasia.
abstract: Ataxia telangiectasia is an autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous telangiectasia, increased serum alpha-fetoprotein, immunodeficiency, chromosomal instability, and radiation hypersensitivity. Ataxia-telangiectasia mutated gene (ATM) is one of the known genes to be associated with ataxia telangiectasia. We reported the clinical and genetic findings of three early-onset Chinese patients who demonstrated ataxia, oculomotor apraxia, choreoathetosis, myoclonus and telangiectasia of eyes. Sequence analysis of ATM revealed two known nonsense mutations c.8287C>T and c.9139C>T in the siblings. Though the siblings carried the same mutations, they showed different clinical features involving strephenopodia, exotropia, torsion dystonia, myoclonus and extrapyramidal impairments. The other patient was compound heterozygotes for ATM: c.8911C>T and c.7141_7151delAATGGAAAAAT, both of which were not reported previously and not found in 200 control chromosomes. This study widens the spectrum of mutations and phenotypes in ataxia telangiectasia.
authors.affiliation: Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Liu
authors.affiliation: Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Tian
authors.initials: T
authors.lastname: Wang
authors.affiliation: Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Huang
authors.affiliation: Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Hai-Yan
authors.initials: HY
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Xing-Hua
authors.initials: XH
authors.lastname: Luan
authors.affiliation: Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Jun-Yi
authors.initials: JY
authors.lastname: Shen
authors.affiliation: Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China. Electronic address: chen_sd@medmail.com.cn.
authors.forename: Sheng-Di
authors.initials: SD
authors.lastname: Chen
authors.affiliation: Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China. Electronic address: caoli2000@yeah.net.
authors.forename: Li
authors.initials: L
authors.lastname: Cao
mesh_terms: D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000503:physiopathology; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D064007:Ataxia Telangiectasia Mutated Proteins
keywords: ATM; Ataxia telangiectasia; Myoclonus; Novel mutation