1. SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.
- Author
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HAN-SHI ZENG, WEI-XIA LIN, SHU-TAO ZHAO, ZHAN-HUI ZHANG, HENG-WEN YANG, FENG-PING CHEN, YUAN-ZONG SONG, and ZHI-NAN YIN
- Subjects
CHOLESTASIS ,ANTISENSE DNA ,MOLECULAR cloning ,LYMPHOCYTES ,DELETION mutation ,CHOLESTASIS in children ,NUCLEIC acid isolation methods ,DIAGNOSIS ,THERAPEUTICS - Abstract
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder resulting from biallelic mutations of the SLC25A13 gene. Due to the lack of well-recognized clinical or biochemical diagnostic criteria, the definitive diagnosis of this disease relies on the genetic analysis of SLC25A13 at present. As novel large deletion/insertion mutations of the SLC25A13 gene are difficult to detect using routine DNA analytic approaches, the timely diagnosis of patients with these types of mutations remains a challenge. The present study aimed to examine SLC25A13 mutations in an infant with a suspected diagnosis of NICCD. DNA was extracted from blood samples, and SLC25A13 mutations were examined by screening for high-frequency mutations and Sanger sequencing. Reverse transcription-polymerase chain reaction and cDNA cloning analyses were then performed using peripheral blood lymphocytes (PBLs) to identify the obscure mutation. The results demonstrated that the infant was heterozygous for a paternally-inherited mutation, c.851_854del4, and a maternally-inherited large deletion, c.1019_1177+893del, which has not been reported previously. A positive diagnosis of NICCD was made, and the infant responded favorably to a galactose-free and medium-chain triglyceride-enriched formula. The present study confirmed the effectiveness of this formula in NICCD therapy, enriched the SLC25A13 mutational spectrum and supported the feasibility of cDNA cloning analysis using PBLs as a molecular tool for facilitating the identification of large SLC25A13 deletions. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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