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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):443-446. doi: 10.3760/cma.j.issn.1003-9406.2019.05.007.

[Clinical and genetic analysis of two children suspected for argininosuccinic aciduria].

[Article in Chinese]

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.

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 ╬╝mol/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.

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