Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 141-146, 2016.
Article
in Zh
| WPRIM
| ID: wpr-279882
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate gene mutations and the relationship between genotypes and clinical phenotypes in Uygur children with 21-hydroxylase deficiency (21-OHD) in Xinjiang, China.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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%).</p><p><b>CONCLUSIONS</b>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.</p>
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
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Steroid 21-Hydroxylase
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China
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Adrenal Hyperplasia, Congenital
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Ethnology
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Genetics
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Genotype
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Mutation
Limits:
Adolescent
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Child
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Female
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Humans
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Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2016
Type:
Article