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The Journal of Clinical Endocrinology & Metabolism Vol. 83, No. 6 2079-2083
Copyright © 1998 by The Endocrine Society

Original Studies

Pro239Ser: A Novel Recessive Mutation of the Pit-1 Gene in Seven Middle Eastern Children with Growth Hormone, Prolactin, and Thyrotropin Deficiency1

Flavia Pernasetti2, Robert D. G. Milner3, Abdullah A. Z. Al Ashwal, Francis de Zegher, Viviana M. Chavez4, Marc Muller and Joseph A. Martial

Laboratory of Molecular Biology and Genetic Engineering (F.P., V.M.C., M.M., J.A.M.), University of Liège, B-4000 Sart Tilman, Liège, Belgium; Department of Obstetrics, Gynecology and Pediatrics (R.D.G.M., F.d.Z.), University of Leuven, B-3000, Leuven, Belgium; Department of Pediatrics (A.A.Z.A.A.), King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Kingdom of Saudi Arabia

Address all correspondence and requests for reprints to: Joseph A. Martial, Laboratory of Molecular Biology and Genetic Engineering, University of Liège, B-4000 Sart Tilman, Liège, Belgium. E-mail: jmartial{at}ulg.ac.be

Pit-1, a member of the POU-homeo domain protein family, is one of the transcription factors responsible for anterior pituitary development and pituitary-specific gene expression. Here, we describe seven children with GH, PRL, and TSH deficiency from three, reportedly unrelated, Middle Eastern families, harboring a newly recognized Pro->Ser recessive mutation in codon 239 of the Pit-1 gene. The mutated residue is located at the beginning of the second {alpha}-helix of the POU-homeodomain and is strictly conserved among all POU proteins. The Pro239Ser mutant binds DNA normally but is unable to stimulate transcription.




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