Abstract：
: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.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
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 Mdoi
10.1016/j.jns.2014.02.033subject
Has Abstractpub_date
2014-05-15 00:00:00pages
86-90issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(14)00138-5journal_volume
340pub_type
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