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Vol. 17, No. 6, pp. 711-716, March 15, 2003
1 Laboratoire de Génétique moléculaire, Institut de
recherches cliniques de Montréal (IRCM), Montréal, QC, H2W 1R7
Canada; 2 Laboratoire ICNE, Institut Jean-Roche, Marseille,
France; 3 Centre Hospitalier Lyon-Sud, Lyon, France;
4 Hôtel-Dieu, Clermont-Ferrand, France; 5 Hôpital
St-Justine, Montréal, QC, H3T 1C5 Canada; 6 University
Medical Centre, Utrecht, The Netherlands; 7 Division of
Paediatric Endocrinology, Department of Paediatrics, Christian
Albrechts University, Kiel, Germany; 8 Ankara University,
Faculty of Medicine, Departments of Pediatric Endocrinology and
Neonatology, Ankara, Turkey
Tpit is a highly cell-restricted transcription factor that is
required for expression of the pro-opiomelanocortin (POMC) gene and for
terminal differentiation of the pituitary corticotroph lineage. Its
exclusive expression in pituitary POMC-expressing cells has suggested
that its mutation may cause isolated deficiency of pituitary
adrenocorticotropin (ACTH). We now show that Tpit-deficient mice
constitute a model of isolated ACTH deficiency (IAD) that is very
similar to human IAD patients carrying TPIT gene mutations. Through genetic analysis of a panel of IAD patients, we show that TPIT gene mutations are associated at high frequency with early onset IAD, but not with juvenile forms of this deficiency. We identified seven different TPIT mutations, including nonsense, missense, point deletion, and a genomic deletion. This work defines congenital early onset IAD as a relatively homogeneous clinical entity
caused by recessive transmission of loss-of-function mutations in the
TPIT gene.
[Keywords: T-box; transcription factor; POMC; hormone deficiency; Tbx19]
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