title: Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.
abstract: OBJECTIVE
  To investigate the differences in the mutation spectra of the SLC25A13 gene mutations from specific regions of China.
  
  
  METHODS
  Genetic analyses of SLC25A13 mutations were performed in 535 patients with neonatal intrahepatic cholestasis from our center over eight years. Unrelated infants with at least one mutant allele were enrolled to calculate the proportion of SLC25A13 mutations in different regions of China. The boundary between northern and southern China was drawn at the historical border of the Yangtze River.
  
  
  RESULTS
  A total of 63 unrelated patients (about 11% of cases with intrahepatic cholestasis) from 16 provinces or municipalities in China had mutations in the SLC25A13 gene, of these 16 (25%) were homozygotes, 28 (44%) were compound heterozygotes and 19 (30%) were heterozygotes. In addition to four well described common mutations (c.851_854del, c.1638_1660dup23, c.615+5G>A and c.1750+72_1751-4dup17insNM_138459.3:2667 also known as IVS16ins3kb), 13 other mutation types were identified, including three novel mutations: c.985_986insT, c.287T>C and c.1349A>G. According to the geographical division criteria, 60 mutant alleles were identified in patients from the southern areas of China, 43 alleles were identified in patients from the border, and 4 alleles were identified in patients from the northern areas of China. The proportion of four common mutations was higher in south region (56/60, 93%) than that in the border region (34/43, 79%, χ(2) = 4.621, P = 0.032) and the northern region (2/4, 50%, χ(2) = 8.288, P = 0.041).
  
  
  CONCLUSIONS
  The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis.
authors.affiliation: Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Wang
authors.forename: Hai-Yan
authors.initials: HY
authors.lastname: Fu
authors.forename: Shao-Ren
authors.initials: SR
authors.lastname: Zhang
authors.forename: Kuerbanjiang
authors.initials: K
authors.lastname: Abudouxikuer
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
authors.forename: Jian-She
authors.initials: JS
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D020159:Citrullinemia / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D012111:Residence Characteristics; D012307:Risk Factors
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; C119629:SLC25A13 protein, human
keywords: Citrin deficiency; Intrahepatic cholestasis; Mutation spectrum; SLC25A13
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