title: [Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].
abstract: OBJECTIVE
  To investigate gene mutations and the relationship between genotypes and clinical phenotypes in Uygur children with 21-hydroxylase deficiency (21-OHD) in Xinjiang, China.
  
  
  METHODS
  A total of 20 Uygur children with 21-OHD who visited the hospital between October 2013 and October 2014 were enrolled. Full-length direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutations of CYP21A2 gene, which encoded 21-hydroxylase. According to the type of mutation, the patients with 21-OHD were divided into different groups to analyze the consistency between predicted clinical phenotypes and actual clinical phenotypes.
  
  
  RESULTS
  A total of 9 mutation types were found in the 20 patients, and 8 of them were identified as pathogenic mutations, i.e., Del, conv, I2g, I172N, Cluster E6, 8-bp del, V281L, and R356W. The other mutation is the new mutation occurring in intron 5 (c.648+37A>G), which had not been reported, and its pathological significance remains unknown. Most clinical phenotypes predicted by mutation types had a higher coincidence rate with actual clinical phenotypes (above 67%), and the clinical phenotypes predicted by P30L and V281L had a lower coincidence rate with actual clinical phenotypes (below 33%).
  
  
  CONCLUSIONS
  The genotype of 21-OHD has a good correlation with phenotype, and the clinical phenotype can be predicted by detecting the patient&prime;s genotype. The new mutation (c.648+37A>G) may be related to the pathogenesis of 21-OHD.
authors.affiliation: Department of Pediatrics, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China. milikita17@aliyun.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Yan-Fei
authors.initials: YF
authors.lastname: Luo
authors.forename: Mireguli
authors.initials: M
authors.lastname: Maimaiti
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics; D002648:Child; D002681:China / Q000208:ethnology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase