Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 926-929, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776773
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a neonate with argininosuccinic aciduria (ASA).@*METHODS@#A neonate with lethargy and food refusal was admitted. The patient had myoclonus, myasthenia, uroschesis, irregular breathing and paroxysmal ventricular tachycardia, and died at 75 hours after birth. Laboratory test showed marked increase in blood ammonia (1249.8 μmol/L). Peripheral blood samples of the patient, her parents and sister were collected and subjected to trio whole-exome sequencing.@*RESULTS@#Whole-exome sequencing revealed that the patient has carried compound heterozygous mutations of the argininosuccinate lyase (ASL) gene, namely c.425(exon5)_c.426(exon5) insAGCTCCCAGCT (p.Thr142Thrfs*37) and c.626(exon8)delT (p.Leu209Argfs*42). The patient was diagnosed as ASA caused by ASL gene mutations. Her parents and her elder sister were heterozygous carriers of the above mutations and had a normal phenotype.@*CONCLUSION@#ASA is a severe congenital genetic metabolic disease and can manifest as onset of hyperammonemia in neonates. The clinical diagnosis is difficult and ASL gene testing may be helpful.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Argininossuccinato Liase
/
Testes Genéticos
/
Hiperamonemia
/
Diagnóstico
/
Acidúria Argininossuccínica
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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