Clinical and genetic analysis of two children suspected for argininosuccinic aciduria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 443-446, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-771994
ABSTRACT
OBJECTIVE@#To analyze the clinical and genetic features of two children suspected for arginylsuccinuria aciduria.@*METHODS@#The patients were subjected to high-throughput sequencing using a gene panel.@*RESULTS@#Both patients had high citrulline (87.37-156.10 μmol/L) measured by mass spectrometry/mass spectrometry (MS/MS) upon neonatal screening but had no symptoms. Two compound heterozygous variants of the ASL gene were detected in patient 1 (exon 6 c.467C>T inherited from her father and exon 7 c.556C>T inherited from her mother), among which c.556C>T is novel. Patient 2 had mental retardation and two full siblings who had died of hyperammonemia. Two compound heterozygosity variants of the ASL gene were detected (exon 3 c.281G>T inherited from his father and intron c.208-15T>A inherited from his mother). Both were novel mutations.@*CONCLUSION@#Variants of the ASL gene probably underlie the argininosuccinic aciduria in the two patients. Above findings have enriched the spectrum of ASL mutations.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genetic Testing
/
Neonatal Screening
/
Hyperammonemia
/
Tandem Mass Spectrometry
/
Argininosuccinic Aciduria
Type of study:
Prognostic study
Limits:
Child
/
Female
/
Humans
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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