A case of congenital nephrogenic diabetes insipidus: his pedigree and clinical evaluation / 中华内分泌代谢杂志

A case of arginine vasopressin receptor 2 ( AV PR2 ) mutation in a boy with congenital nephrogenic diabetes insipidus was reported.Genomic DNA of the boy and his family members was extracted.The entire coding region of the AVPR2 gene were amplified by PCR.The amplified products were purified and sequenced.The results were compared with the normal one of the gene bank.The impact of the mutation on AVPR2 structure was discussed with respect to homology structure model.The analysis identified a T to G transition in exon 2 of the AVPR2 gene,resulting in substitution of leucine for arginine at amino acid residue 168.Furthermore,the patient′s mother and sister were heterozygous for this mutation,and the father was normol.

One case of late-onset adrenal hypoplasia congenita caused by a novel mutation of DAX-1 gene / 中华内分泌代谢杂志

A novel hemizygous frameshift mutation in exon1of DAX-1 gene (993delC) was found in a patient with late-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism.This mutation led the stop codon to appear in advance of 59 amino acids.His mother and two sisters were the carriers of this hemizygous mutation while his father and brother were wild-type.After glucocorticoid hormone replacement therapy, the clinical symptom was improved, but the level of ACTH was not suppressed.