ASS1 mutation leading to citrullinemia I in a Chinese Han family.
- Author:
Ping HU
1
;
Xiao-yan ZHOU
;
Ding-yuan MA
;
Yun SUN
;
Xiao-juan ZHANG
;
Shu-ping HAN
;
Zhang-bin YU
;
Tao JIANG
;
Yu-lin CHEN
;
Zhengfeng XU
Author Information
- Publication Type:Case Reports
- MeSH: Amino Acid Sequence; Amino Acid Substitution; Argininosuccinate Synthase; chemistry; genetics; Base Sequence; Citrullinemia; genetics; Gene Order; Humans; Infant; Male; Models, Molecular; Molecular Sequence Data; Mutation, Missense; Protein Conformation; Sequence Alignment; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2011;28(6):630-633
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I.
METHODSGenomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing.
RESULTSA homozygous missense mutation of c.970G>A located in exon 13, which results in p.G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation.
CONCLUSIONA missense mutation of c.970G>A in the ASS1 gene is responsible for the pathogenesis of the disease in the infant.
