Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 783-786, 2013.
Artículo
en Chino
| WPRIM
| ID: wpr-275622
ABSTRACT
<p><b>OBJECTIVE</b>The aim of this study was to explore the genetic features of a family with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) which may provide the basis for the diagnosis and genetic counseling.</p><p><b>METHOD</b>Clinical data of the proband was collected, total RNA and genomic DNA were extracted from the peripheral blood. The whole coding region of the ACAT1 gene was amplified by RT-PCR. 5' noncoding region of the ACAT1 gene and all 6 exons and flanking intron regions of the HADH2 gene were amplified by PCR. All amplification products were directly sequenced and compared with the reference sequence.</p><p><b>RESULT</b>(1) The patient was a one-year-old boy who presented with psychomotor retardation and astasia when he was admitted to the hospital. Biochemical test revealed slight hyperlactatemia (3.19 mmol/L) and magnetic resonance imaging showed delayed myelination. 2-Methylacetoacetyl-CoA thiolase deficiency was suggested by gas chromatography-mass spectrometry. (2) There was no mutation in the ACAT1 gene and a hemizygous missense mutation c.388C > T was found in the 4 exon of the HADH2 gene which resulted in p. R130C. Proband's mother was the heterozygote and the father was normal.</p><p><b>CONCLUSION</b>This is the first report on MHBDD patient and HADH2 mutation in China. p.R130C is responsible for the pathogenesis of the disease in the infant.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Linaje
/
Acetil-CoA C-Acetiltransferasa
/
Acilcoenzima A
/
Análisis Mutacional de ADN
/
Secuencia de Bases
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Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
/
Mutación Missense
/
Discinesias
/
Discapacidad Intelectual Ligada al Cromosoma X
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Pediatrics
Año:
2013
Tipo del documento:
Artículo
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