Abstract | BACKGROUND: CASE PRESENTATION: In this study, we use next generation sequencing (NGS) and exon trapping to analysis the family members. We identified compound heterozygous mutations of the argininosuccinate lyase (ASL) gene in a Chinese Han ASAuria patient. The c.434A>G (p.(D145G)) mutation in exon 5 was shown by exon trapping to select for the formation of an alternative transcript deleted for exon 5. The c.1366C>T (p.(R456W)) mutation had been previously reported in an Italian patient. CONCLUSIONS: This is the first report of a missense mutation driving alternative splicing which results in the loss of exon 5 in ASAuria. This study also demonstrates the value of NGS in the identification of mutations and molecular diagnosis for ASAuria families.
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Authors | Wei Wen, Dan Yin, Fangfang Huang, Meng Guo, Tian Tian, Hui Zhu, Yun Yang |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 17
Pg. 9
(Feb 03 2016)
ISSN: 1471-2350 [Electronic] England |
PMID | 26843370
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Ammonia
- Argininosuccinate Lyase
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Topics |
- Alternative Splicing
- Ammonia
(blood)
- Argininosuccinate Lyase
(genetics)
- Argininosuccinic Aciduria
(diagnosis, genetics)
- Asian People
(genetics)
- China
- DNA Mutational Analysis
- Exons
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Infant, Newborn
- Male
- Mutation, Missense
- Pedigree
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