The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia

Fu, Haiyan; Zhang, Shaoren; Wang, Xiaohong; Saheki, Takeyori; Kobayashi, Keiko; Wang, Jianshe

doi:10.1007/s00535-010-0329-y

Cited by 31 publications

(29 citation statements)

References 36 publications

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“…Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD, OMIM 605814) in infants, adult-onset citrullinemia type II (CTLN2, OMIM 603471) in adolescents/adults, and Failure to Thrive and Dyslipidemia caused by Citrin Deficiency (FTTDCD) between the two aforementioned CD stages Song et al 2011Song et al , 2013Kobayashi et al 2012). As a worldwide distributed disease entity, CD is relatively more common among East Asian population (Fu et al 2011;Song et al 2013;Vitoria et al 2013;Wongkittichote et al 2013a). The estimated carrier rate of SLC25A13 mutations had been documented to be 1/63 in China, and particularly 1/48 in its south area (Lu et al 2005;Kobayashi et al 2008).…”

Section: Introductionmentioning

confidence: 99%

Screening for Five Prevalent Mutations of <i>SLC25A13</i> Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

Zhang

Yang

Chen

et al. 2014

Tohoku J. Exp. Med.

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Citrin is the liver-type aspartate/glutamate carrier isoform 2 (AGC2) encoded by SLC25A13 gene, playing important roles in the urea cycle and the malate-aspartate shuttle. Citrin deficiency (CD) has proven a disease entity with high prevalence in south China, including Guangdong with the largest population, but CD epidemiology in this province has not been well characterized. This study aims to screen for five prevalent SLC25A13 mutations, c.851_854del (p.R284fs286X), c.1638_1660dup (p.A554fs570X), c.615+5G>A (p.A206fs212X), IVS16ins3kb (p.A584fs585X) and c.1399C>T (p.R467X), to calculate the mutation carrier rate in Guangdong. A total of 2,428 used blood samples for health examination were collected as the research subjects, including 1,558 from 5 cities in the Pearl River Delta area and the remaining 870 from 4 peripheral cities, and the 5 mutations screened using High Resolution Melting Assay and HybProbe assay. A total of 52 carriers were detected, including 2 carriers of a novel c.1420G>A (p.V474M) mutation that impairs citrin function, as judged by the functional analysis in the yeast system. The carrier rate was higher in Pearl River Delta area than that in the peripheral cities (26/1,558 vs. 26/870, with χ 2 = 4.639 and P < 0.05). The carrier rate was around 1/47 (52/2,428), theoretically with the CD morbidity of 1/8,800 and the number of CD patients over 11,800 in Guangdong population. This study has provided primary epidemiologic data for the evaluation of CD effect in Guangdong province. Moreover, the newly identified c.1420G>A mutation that impairs AGC2 function has enriched the mutation spectrum of human SLC25A13 gene.

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Section: Introductionmentioning

confidence: 99%

Screening for Five Prevalent Mutations of <i>SLC25A13</i> Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

Zhang

Yang

Chen

et al. 2014

Tohoku J. Exp. Med.

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“…Serum total bilirubin (TBil) > 85 mmol/L and direct bilirubin (DBil) that accounted for 20% of the TBil, or TBil <85 mmol/L and DBil >17 mmol/L of unknown causes. The exclusion criteria were: (1) diseases affecting the extrahepatic biliary system, such as biliary atresia, choledochal cyst, tumor, inspissated bile, or hemangioma, among others, by imaging of the hepatobiliary system; 25 (2) patients with persistent cholestasis and low c-glutamyl transpeptidase (GGT; no more than 50 U/L), which may be indicative of progressive familiar intrahepatic cholestasis or bile salt synthesis defects;…”

Section: Subjectsmentioning

confidence: 99%

Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients

Shi

et al. 2017

Exp Biol Med (Maywood)

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This study aims to compare FBG, FINS, C-P, other biochemical and clinical manifestations between NICCD and non-NICCD infants, and discuss differential diagnosis of NICCD and INC beyond the genetic analysis. And investigate the correlation between SLC25A13 genetic mutations and biochemical changes. This work presented that incidence of hypoglycemia may be higher in small gestational age infants with NICCD. Low LDL-C may be one of the characteristics of dyslipidemia in NICCD infants. There was a correlation between SLC25A13 gene mutations distribution and the GGT level. AbstractNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS) and C-peptide (C-P) levels in NICCD infants, analyze their SLC25A13 genetic mutations and further discuss the correlation between SLC25A13 genetic mutations and biochemical changes. Seventy-two cases of infants with cholestasis disease were gathered. Among them, 36 cases with NICCD diagnosis were case group. Meanwhile, 36 cases with unknown etiology but excluded NICCD were control group. FBG, FINS, C-P, ALT, AST, GGT, ALP, TG, HDL-C, LDL-C and Non-HDL-C were collected from all subjects, and DNA was extracted from venous blood for SLC25A13 mutations detection. The incidence of hypoglycemia was 3% in NICCD group. There were no significant statistical difference of FBG, FINS and C-P between NICCD and INC groups (P > 0.05). ALT, LDL-C and Non-HDL-C levels in NICCD group were lower than the INC group, while SLC25A13 mutations were associated with the level of GGT (P < 0.05). Ten different SLC25A13 genetic mutations were detected, among which, 851del4, IVS16ins3kb, IVS6þ5 G > A and 1638ins23 mutations made up 82% of all mutations. The incidence of hypoglycemia may be higher in small gestational age infants with NICCD. Low LDL-C may be one of the characteristics of dyslipidemia in NICCD infants. There was a correlation between SLC25A13 gene mutations distribution and the GGT level, but the meaning of this finding remains to be further in-depth study.

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“…In 2002, Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, OMIM # 605814) was designated as a specific term standing for the CD phenotype during infancy (Saheki and Kobayashi, 2002;Saheki et al, 2002;Yamaguchi et al, 2002). In the past 10 years, more and more NICCD patients were diagnosed, not only in Japan (Kimura et al, 2010;Ohura et al, 2003Ohura et al, ,2007Tabata et al, 2008;Takaya et al, 2005;Tamamori et al, 2002;Tazawa et al, 2004;Tokuhara et al, 2007), but also in other Asian countries or regions (Ben-Shalom et al, 2002;Fu et al, 2010Fu et al, , 2011J.M. Ko et al, 2007;J.S.…”

Section: Introductionmentioning

confidence: 97%

“…However, conventional DNA analytic procedures, such as PCR, PCR-RFLP and direct sequencing, could not identify all SLC25A13 mutations (Song et al, 2011;Tokuhara et al, 2007;Wong et al, 2008). In such cases, expression product analysis of protein (Fu et al, 2011) and mRNA (Dimmock et al, 2007) levels have proven valuable diagnostic evidences. Specimen source thus arose as a bottleneck issue since SLC25A13 is mainly expressed in the liver, kidney and pancreas (Kobayashi et al, 1999).…”

Section: Introductionmentioning

confidence: 98%

Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis

Lin

Zhang

Deng

et al. 2012

Gene

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The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia

Cited by 31 publications

References 36 publications

Screening for Five Prevalent Mutations of <i>SLC25A13</i> Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

Screening for Five Prevalent Mutations of <i>SLC25A13</i> Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients

Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis

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