Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.
Mol Genet Metab
; 101(1): 87-9, 2010 Sep.
Article
em En
| MEDLINE
| ID: mdl-20591708
ABSTRACT
We present a patient with congenital lactic acidosis, agenesis of the corpus callosum, and profound developmental delay. Assays of pyruvate dehydrogenase complex function were normal in lymphocytes, but decreased in fibroblasts. Sequencing of the PDHA1 gene did not reveal deleterious mutations, and BAC based microarray analysis did not reveal any chromosomal abnormality. However, gene dosage analysis with oligonucleotide-based chromosomal microarray revealed a deletion of Xp22.12-Xp22.13 involving complete deletion of PDHA1. This is the first report of a whole gene deletion of PDHA1 detected by oligonucleotide-based microarray.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Acidose Láctica
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Cromossomos Humanos Par 22
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Deleção de Genes
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Piruvato Desidrogenase (Lipoamida)
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Estados Unidos