Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.
Neurogenetics
; 16(2): 145-9, 2015 Apr.
Article
em En
| MEDLINE
| ID: mdl-25432320
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
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Aminoacil-tRNA Sintetases
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Microcefalia
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Mutação
Limite:
Child
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Humans
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Male
Idioma:
En
Revista:
Neurogenetics
Ano de publicação:
2015
Tipo de documento:
Article