کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2803641 | 1156744 | 2007 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: A novel missense mutation in the initiation codon and a 7.6 kb deletion A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: A novel missense mutation in the initiation codon and a 7.6 kb deletion](/preview/png/2803641.png)
ObjectiveTo characterize the cause of a sporadic isolated growth hormone deficiency in a single patient.MethodsGenomic DNA was extracted from blood samples of the patient and his family. Exons and exon–intron junctions of the GH-1 gene were amplified by PCR and sequenced. To characterize possible GH-1 deletions we performed Southern blot analysis and PCR-restriction fragment length analyses.ResultsAn adenine to guanine mutation at the first nucleotide of the initiation codon (Met [ATG](-26)Val [GTG]) of the GH-1 gene was identified in the patient and the mother. A 7.6 kb GH-1 deletion was identified in the patient, the brother and the father.ConclusionThe patient was a compound heterozygote for an allele bearing a Met(-26)Val missense mutation inherited from his mother and an allele containing deletion of the entire GH-1 gene inherited from his father. The present missense mutation has not been described previously. Attention should be paid to the heterozygous gene deletion that is difficult to detect by PCR-based genetic analysis. The patient responded to GH replacement therapy fairly well, without developing anti-hGH antibody.
Journal: Growth Hormone & IGF Research - Volume 17, Issue 3, June 2007, Pages 249–253