Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 676-679, 2017.
Article
em Zh
| WPRIM
| ID: wpr-344198
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations in six patients with citrullinemia.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing.</p><p><b>RESULTS</b>One patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation of the ASL gene. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23]. Among these, the c.1311T>G mutation was first identified in the Chinese population, and the IVS6-11A>G mutation was a novel variation which may affect the splicing, as predicted by Human Splicing Finder software.</p><p><b>CONCLUSION</b>This study has confirmed the molecular diagnosis of citrullinemia in six patients and expanded the mutational spectrum underlying citrullinemia.</p>
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Índice:
WPRIM
Assunto principal:
Argininossuccinato Liase
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Argininossuccinato Sintase
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Análise Mutacional de DNA
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Citrulinemia
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Proteínas de Transporte da Membrana Mitocondrial
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Genética
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Mutação
Limite:
Female
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Humans
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Infant
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Male
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Article