Objective To analyze CYP21A2 mutations in 21-hydroxylase deficiency children and their parents,and to provide scientific evidence for effectively performing prenatal diagnosis. Methods Fourteen 21-hydroxylase deficiency patients and the parents from Liuzhou Municipal Maternity and Child Healthcare Hospital were enrolled from August 2013 to December 2015.The mutations of CYP21A2 and gross deletions were determined by PCR based Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Results Genetic analysis revealed 4 kinds of CYP21A2 mutations.Different forms of point mutations accounted for 89.3% (25/28),including c.293-13C>G (46.4%),c.518T>A (39.2%),and c.737delA (3.6%).Deletions accounted for 10.7% (3/28),all of which were CYP21A2 exon 1-3 deletion.Prenatal diagnosis revealed 2 cases were carriers. Conclusions CYP21A2 c.293-13C>G and c.518T>A are common mutations in local patients with 21-hydroxylase deficiency.Sanger sequencing combined with MLPA could identify both point mutation and deletions of CYP21A2,which may be a reliable method for molecular diagnosis of CAH.
Key words
congenital adrenal hyperplasia /
CYP21A2 /
point mutation /
deletion
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