Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-04

AUTHORS

Ramona Salvarinova, Cynthia X. Ye, Andrea Rossi, Roberta Biancheri, Elke H. Roland, Paul Pavlidis, Colin J. Ross, Maja Tarailo-Graovac, Wyeth W. Wasserman, Clara D. M. van Karnebeek

ABSTRACT

We describe a family with QARS deficiency due to compound heterozygous QARS mutations, including c.1387G > A (p.R463*) in the catalytic core domain and c.2226C > G (p.Q742H) in the anticodon domain, both previously unreported and predicted damaging. The phenotype of the male index further confirms this specific aminoacyl-transfer RNA (tRNA) synthetase disorder as a novel genetic cause of progressive microcephaly with diffuse cerebral atrophy, severely deficient myelination, intractable seizures, and developmental arrest. However, in contrast to the two hitherto published families, the cerebellum and its myelination are not affected. An awareness that QARS mutations may cause isolated supratentorial changes is crucial for properly directing genetic analysis. More... »

PAGES

145-149

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10048-014-0432-y

DOI

http://dx.doi.org/10.1007/s10048-014-0432-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020722843

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25432320


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