Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 574-578, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-237204
ABSTRACT
<p><b>OBJECTIVE</b>To report on 5 patients with maternal 3-methylcrotonyl coenzyme A carboxylase deficiency (MCCD) and to confirm the clinical diagnosis through mutation analysis.</p><p><b>METHODS</b>Five neonates with higher blood 3-hydroxy isovalerylcarnitine (C5-OH) concentration detected upon newborn screening with tandem mass spectrometry and their mothers were recruited. Urinary organic acids were analyzed with gas chromatography mass spectrometry. Gene mutation and protein function analysis were performed by PCR direct sequencing and PolyPhen-2 software.</p><p><b>RESULTS</b>Higher blood C5-OH concentrations (5.11-21.77 μmol/L) and abnormal 3-hydroxy isovalerate and 3-methylcrotonyl glycine in urine were detected in the five asymptomatic mothers, who were diagnosed as benign MCCD. Higher C5-OH concentration was also detected in their neonates by tandem mass spectrometry, which had gradually decreased to normal levels in three neonates. Four new variations, i.e., c.ins1680A(25%), c.203C > T (p.A68V), c.572T > C (p.L191P) and c.639+5G > T were detected in the MCCC1 gene, in addition with 2 mutations [c.1406G > T (p.R469L, novel variation) and c.592C > T (p.Q198X)]. The novel variations were predicted to have affected protein structure and function.</p><p><b>CONCLUSION</b>For neonates with higher C5-OH concentration detected upon neonatal screening, their mothers should be also tested to rule out MCCD. Mutations in MCCC1 gene are quite common.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sangue
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Carnitina
/
Fatores Sexuais
/
Sequência de Aminoácidos
/
Triagem Neonatal
/
Impressão Genômica
/
Carbono-Carbono Ligases
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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