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BMC Med Genet. 2016 Feb 3;17:9. doi: 10.1186/s12881-016-0273-7.

NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

Wen W1, Yin D2,3, Huang F4, Guo M5, Tian T6,7, Zhu H8,9, Yang Y10,11,12.

Author information

1
Neonatal Screening Centre, Shenzhen Maternity and Child Healthcare Hospital, No. 3012, Fuqiang Road, Futian District, Shenzhen, Guangdong Province, China. wenwei1087@sina.com.
2
BGI-Wuhan, Wuhan, 430075, China. yindan@genomics.cn.
3
BGI-Shenzhen, Shenzhen, 518083, China. yindan@genomics.cn.
4
Neonatal Screening Centre, Shenzhen Maternity and Child Healthcare Hospital, No. 3012, Fuqiang Road, Futian District, Shenzhen, Guangdong Province, China. 1966079076@qq.com.
5
Neonatal Screening Centre, Shenzhen Maternity and Child Healthcare Hospital, No. 3012, Fuqiang Road, Futian District, Shenzhen, Guangdong Province, China. szfyxszx@163.com.
6
BGI-Wuhan, Wuhan, 430075, China. tiantian1@genomics.cn.
7
BGI-Shenzhen, Shenzhen, 518083, China. tiantian1@genomics.cn.
8
BGI-Wuhan, Wuhan, 430075, China. 1442353589@qq.com.
9
BGI-Shenzhen, Shenzhen, 518083, China. 1442353589@qq.com.
10
BGI-Wuhan, Wuhan, 430075, China. yangyun@genomics.cn.
11
BGI-Shenzhen, Shenzhen, 518083, China. yangyun@genomics.cn.
12
Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China. yangyun@genomics.cn.

Abstract

BACKGROUND:

Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to perform genetic test to the patient and help clinician to diagnose precisely.

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.

PMID:
26843370
PMCID:
PMC4739340
DOI:
10.1186/s12881-016-0273-7
[Indexed for MEDLINE]
Free PMC Article

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