Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency

R. Paracchini, Mara Giordano, A. Corrias, S. Mellone, P. Matarazzo, J. Bellone, P. Momigliano-Richiardi, G. Bona

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer review

Abstract

Mutations in the Prophet of Pit-1 (Prop- 1), a paired-like homeodomain transcription factor involved in the early embryonic pituitary development, have been reported as a cause of combined hormone deficiency (CPHD) involving growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH), gonadotrophins and in some cases adrenocorticotrophic hormone (ACTH). We report two pre-pubertal siblings with short stature and deficiency of GH and TSH at presentation. Molecular analysis of the PROP1 gene revealed compound heterozygotes for two novel missense mutations of the PROP1 gene affecting the same amino acid (Arg71Cys and Arg71His) in the first alpha helix of the Prop-1 homeodomain.

Lingua originaleInglese
pagine (da-a)142-147
Numero di pagine6
RivistaClinical Genetics
Volume64
Numero di pubblicazione2
DOI
Stato di pubblicazionePubblicato - 1 ago 2003

Fingerprint

Entra nei temi di ricerca di 'Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency'. Insieme formano una fingerprint unica.

Cita questo