Journal
JOURNAL OF HUMAN GENETICS
Volume 65, Issue 9, Pages 751-757Publisher
SPRINGERNATURE
DOI: 10.1038/s10038-020-0765-3
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Funding
- AMED [JP19ek0109280, JP19dm0107090, JP19ek0109301, JP19ek0109348, JP18kk020501]
- JSPS KAKENHI [JP17H01539, JP19H03621]
- Ministry of Health, Labour, and Welfare
- Takeda Science Foundation
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Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices (MIM:616647). ITPase plays an important role in purine metabolism. In this study, we identified two novel homozygous ITPA variants, c.264-1 G > A and c.489-1 G > A, in two unrelated consanguineous families. The probands had epilepsy, microcephaly with characteristic magnetic resonance imaging findings (T2 hyperintensity signals in the pyramidal tracts of the internal capsule, delayed myelination, and thin corpus callosum), hypotonia, and developmental delay; both died in early infancy. Our report expands the knowledge of clinical consequences of biallelic ITPA variants.
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