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.Fulllength 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's genotype.The new mutation(c.648+37A>G) may be related to the pathogenesis of 21-OHD.
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