Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10312639" target="_blank" >RIV/00216208:11110/15:10312639 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/15:10312639
Result on the web
<a href="http://dx.doi.org/10.1002/ana.24496" target="_blank" >http://dx.doi.org/10.1002/ana.24496</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ana.24496" target="_blank" >10.1002/ana.24496</a>

Result language
angličtina
Original language name
Recessive ITPA Mutations Cause an Early Infantile Encephalopathy
Original language description
Objective: To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods: Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results: Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T-2 signal abnormalities and diffusion restriction in the posterior limbof the internal capsule, often also optic radiation, brainstem tracts, and cerebellar white matter, in combination with delayed myelination and progressive brain atrophy. Patients presented with early infantile onset encephalopathy characterized by progressive microcephaly, seizures, variable cardiac defects, and early death. Metabolic testing was unrevealing. Single nucleotide polymorphism array revealed 1 overlapping homozygous region on chromosome 20 in the consanguineous families. I
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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