help button home button Endocrine Society JCEM JCEM Call for Nominations for EIC
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text (PDF)
Right arrow Submit a related Letter to the Editor
Right arrow Purchase Article
Right arrow View Shopping Cart
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Akinci, A.
Right arrow Articles by Mullis, P. E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Akinci, A.
Right arrow Articles by Mullis, P. E.

Journal of Clinical Endocrinology & Metabolism, Vol 75, 437-441, Copyright © 1992 by Endocrine Society

ARTICLES

Isolated growth hormone (GH) deficiency type IA associated with a 45- kilobase gene deletion within the human GH gene cluster

A Akinci, C Kanaka, A Eble, N Akar, S Vidinlisan and PE Mullis
Department of Pediatrics, Inselspital, Bern, Switzerland.

A Turkish family of seven individuals (two parents and five offspring) is described in which three children presented with isolated GH deficiency type IA, as defined by Illig et al. The gene deletion responsible for the isolated GH deficiency was characterized by Southern blotting and hybridization analysis of genomic DNA using a 32P- labeled hGH cDNA clone as a probe. In the affected patients, a total of approximately 45 kilobases of DNA, encompassing the human (h) GH-1, human chorionic somatomammotropin-L (hCS-L), hCS-A, and hGH-2 genes, were deleted. The end points of the deletion lay within two regions of highly homologous DNA sequence situated 5' to the hGH-1 gene and 5' to the hCS-B gene. The retention of only the hCS-B gene was associated with normal weight and length at birth and normal postpartum lactation in the mother heterozygous for the deletion. The parents, who are consanguineous, both presented with a DNA restriction pattern consistent with heterozygosity for this deletion.


This article has been cited by other articles:


Home page
 EndocrinologyHome page
D. I. Iliev, N. E. Wittekindt, M. B. Ranke, and G. Binder
Structural Analysis of Human Growth Hormone with Respect to the Dominant Expression of Growth Hormone (GH) Mutations in Isolated GH Deficiency Type II
Endocrinology, March 1, 2005; 146(3): 1411 - 1417.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 1992 by The Endocrine Society