Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.


:A number of diseases exhibit neurodegeneration with/without additional symptoms such as immunodeficiency, increased cancer risk, and microcephalus. Ataxia telangiectasia and Nijmegen breakage syndrome, for example, develop as a result of mutations in genes involved in the DNA damage response. However, such diseases can be difficult to diagnose as they are only rarely encountered by physicians. To overcome this challenge, nine patients with symptoms that resemble those of ataxia telangiectasia, including neurodegeneration, hypogammaglobulinemia, telangiectasia, and/or elevated serum α-fetoprotein, were subjected to whole-exome sequencing (WES) to identify the causative mutations. Molecular diagnosis was achieved in two patients: one displayed CD40 ligand (CD40LG) deficiency, while a second showed a homozygous SIL1 mutation, which has been linked to Marinesco-Sjögren syndrome (MSS). Typical features of CD40LG deficiency and MSS are distinct from the symptoms usually seen in ataxia telangiectasia. These dissociations between phenotype and genotype make it difficult to achieve molecular diagnosis of orphan diseases. Whole-exome sequencing analyses will assist in the molecular diagnosis of such cases and allow the identification of genotypes that would not be expected from the phenotype.


J Neurol Sci


Hasegawa S,Imai K,Yoshida K,Okuno Y,Muramatsu H,Shiraishi Y,Chiba K,Tanaka H,Miyano S,Kojima S,Ogawa S,Morio T,Mizutani S,Takagi M




Has Abstract


2014-05-15 00:00:00














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    abstract:PURPOSE:To investigate the relationship between linear lesions (LL) and the development of longitudinally extensive spinal cord lesions (LESCL) in Chinese patients with neuromyelitis optica or longitudinally extensive transverse myelitis. METHOD:The clinical records of 143 patients with these conditions were reviewed....

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    pub_type: 杂志文章


    authors: Cai W,Tan S,Zhang L,Shan Y,Wang Y,Lin Y,Zhou F,Zhang B,Chen X,Zhou L,Wang Y,Huang X,Men X,Li H,Qiu W,Hu X,Lu Z

    更新日期:2016-01-15 00:00:00

  • Intracerebral haemorrhage, a possible presentation in Churg-Strauss syndrome: case report and review of the literature.

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    pub_type: 杂志文章,评审


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    更新日期:2011-02-15 00:00:00

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    pub_type: 杂志文章


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    更新日期:2001-09-15 00:00:00

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    journal_title:Journal of the neurological sciences

    pub_type: 杂志文章


    authors: Khuraibet AJ,Shakir RA,Trontelj JV,Butinar D,al-Din AS

    更新日期:1988-11-01 00:00:00

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    pub_type: 杂志文章


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    更新日期:2004-09-15 00:00:00

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    pub_type: 临床试验,杂志文章,随机对照试验


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    pub_type: 杂志文章


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    pub_type: 杂志文章,meta分析


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    pub_type: 杂志文章,评审


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    journal_title:Journal of the neurological sciences

    pub_type: 杂志文章


    authors: Jellinger KA

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    pub_type: 杂志文章


    authors: Nagaratnam N,Kalasabail G

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