AI Article Synopsis
- - Two new variants of the ASNS gene have been identified, expanding its mutation spectrum.
- - Loss of ASNS function is linked to symptoms in newborns like microcephaly, intellectual disability, cerebral atrophy, and seizures.
- - Analyzing and sequencing saved newborn blood spots can help diagnose cases when no samples are available from deceased infants.
Article Abstract
We add two novel variants to the existing mutation spectrum of ASNS gene. Loss of ASNS function should be suspected in newborns presenting with congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Acquisition and sequencing of stored newborn blood spot can be a valuable option when no biological samples are available from a deceased child.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771929 | PMC |
| http://dx.doi.org/10.1002/ccr3.1284 | DOI Listing |
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