A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency

Growth Hormone and IGF Research

Volumn 9, Issue 6, 1999, Pages 434-437

  Hayashi, Yoshitaka ^a   Kamijo, Takashi ^b   Yamamoto, Michiyo ^a,d   Ohmori, Sachiko ^a   Phillips III, John A ^c   Ogawa, Masamichi ^d   Igarashi, Yutaka ^e   Seo, Hisao ^a  

^a NAGOYA UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Ogawa Clinic   (Japan)

^e Igarashi Children's Clinic   (Japan)

Author keywords

Dominant negative effect; Growth retardation; Short statue; Splicing

Indexed keywords

GROWTH HORMONE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; DONOR SITE; EXON; GENE EXPRESSION; GENE MUTATION; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HUMAN; INTRON; PRIORITY JOURNAL;

EID: 0033401007     PISSN: 10966374     EISSN: None     Source Type: Journal    
DOI: 10.1054/ghir.1999.0126     Document Type: Article

References (15)

1. Phillips J. A. I. I. I., Scriver C. R., Bearudet A. L., Sly W. S., Valle D. (eds). Inherited defects in growth hormone synthesis and action. The metabolic and molecular bases of inherited disease. 1995;McGraw-Hill, New York. p. 3023-3044.
2. Phillips J. A. I. I. I., Hjelle B. L., Seeburg P. H., Zachmann M. Molecular basis for familial isolated growth hormone deficiency. Proc Natl Acad Sci USA. 78:1981;6372-6378.
3. Phillips J. A. I. I. I., Parks J. S., Hjelle B. L., Herd J. E., Plotnick L. P., Migeon C. J., Seeburg P. H. Genetic basis of familial isolated growth hormone deficiency type I. J Clin Invest. 70:1982;489-490.
4. Cogan J. D., Phillips J. A. I. I. I., Sakati N., Frisch H., Schober E., Milner R. D. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J Clin Endocrinol Metab. 76:1993;1224-1228.
5. Kamijo T., Phillips J. A. I. I. I. Detection of molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products. J Clin Endocrinol Metab. 74:1992;786-789.
6. Cogan J. D., Phillips J. A. I. I. I., Schenkman S. S., Milner R. D., Sakati N. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein. J Clin Endocrinol Metab. 79:1994;1261-1265.
7. Binder G., Ranke M. B. Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J Clin Endocrinol Metab. 80:1995;1247-1252.
8. Cogan J. D., Ramel B., Lehto M., Phillips J. A. I. I. I., Prince M., Blizzard R. M., de Rack T. J., Brammert M., Groop L. A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency - a clinical research center study. J Clin Endocrinol Metab. 80:1995;3591-3595.
9. Missarelli C., Herrera L., Mericq V., Carvallo P. Two different 5′ splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency. Hum Genet. 101:1997;113-117.
10. Kamijo T., Hayashi Y., Shimatsu S., Kinoshita E., Yoshimoto M., Ogawa M., Seo H. Mutations in Intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families. Clin Endocrinol (Oxford). 51:1999;355-360.
11. Hayashi Y., Yamamoto M., Ohmori S., Ogawa M., Seo H. Inhibition of growth hormone secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated growth hormone deficiency inherited in an autosomal dominant manner. J Clin Endocrinol Metab. 84:1999;2134-2139.
12. McCarthy E. M., Phillips J. A. III. Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. Human Mol Gen. 7:1998;1491-1496.
13. Lewin B. Genes V. 1994;Oxford University Press, Oxford. p. 914.
14. Wang J., Takeuchi T., Tanaka S., Kubo S. K., Kayo T., Lu D., Takata K., Koizumi A., Izumi T. A mutation in the insulin 2 gene induces diabetes with severe pancreatic β-cell dysfunction in the Mody mouse. J Clin Invest. 103:1999;27-37.
15. Wagner J. K., Eble A., Hindmarsh P. C., Mullis P. E. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res. 43:1998;105-110.