Clinical and genetic analysis of two children suspected for argininosuccinic aciduria.
10.3760/cma.j.issn.1003-9406.2019.05.007
- Author:
Wei CHENG
1
;
Yun SUN
;
Yanyun WANG
;
Dingyuan MA
;
Tao JIANG
Author Information
1. Genetic Medicine Center, Nanjing Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University (Nanjing Maternal and Child Health Care Hospital), Nanjing, Jiangsu 210004, China. Email: jiangzhang784@163.com.
- Publication Type:Journal Article
- MeSH:
Argininosuccinic Aciduria;
Child;
Female;
Genetic Testing;
Humans;
Hyperammonemia;
Infant, Newborn;
Neonatal Screening;
Tandem Mass Spectrometry
- From:
Chinese Journal of Medical Genetics
2019;36(5):443-446
- CountryChina
- Language:Chinese
-
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.
