Growth hormone deficiency in 2 siblings associated with combined GH1 gene polymorphisms.

Abstract

This study was performed to clarify the pathophysiology of familial short stature with moderate GH deficiency.The siblings showed moderate GH deficiency with short stature. Pedigree analysis revealed an accumulation of the history of short stature in father's relatives, although there was no consanguinity.We performed sequencing analysis of GH1 and GHSR gene in the siblings.We detected SNPs in the GH1 gene in the combination of the - 278G, - 57T, +1169T, and +2103C in one allele from the father and the - 278T, - 57G, +1169 A, and +2103T in the other allele from the mother in the siblings. In the previous report, the -278G and - 57T allele are associated with low serum IGF-I levels in patients with isolated GH deficiency and the haplotype of the - 278T, - 57G, +1169 A, and +2103T allele exhibited an impaired GH secretion in vitro.It is suggested that these haplotypes were responsible at least in part for the GH deficiency and short stature in these siblings.

• Authors: M Yamamoto, G Iguchi, H Fukuoka, K Miyako, Y Takahashi
• Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association (Exp Clin Endocrinol Diabetes) Vol. 120 Issue 5 Pg. 308-10 (May 2012) ISSN: 1439-3646 [Electronic] Germany
• PMID: 22549341 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

Chemical References

• Receptors, Somatotropin
• Human Growth Hormone
• DNA

Topics

• Alleles
• Base Sequence
• Child
• DNA (chemistry, genetics)
• Female
• Growth Disorders (genetics)
• Human Growth Hormone (deficiency, genetics)
• Humans
• Male
• Molecular Sequence Data
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Single Nucleotide
• Receptors, Somatotropin (genetics)
• Sequence Analysis, DNA
• Siblings