Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/107132
Título: Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita
Autores/as: Krone, Nils
Riepe, Felix Günther
Dörr, Helmuth-Günther
Morlot, Michel
Rudorff, Karl-Heinz
Drop, Stenvert L.S.
Weigel, Johannes
Pura, Mikulas
Kreze, Alexander
Boronat Cortés, Mauro 
de Luca, Filippo
Tiulpakov, Anatoly
Partsch, Carl-Joachim
Peter, Michael
Sippell, Wolfgang G.
Clasificación UNESCO: 32 Ciencias médicas
Palabras clave: NR0B1
DAX1
AHC
Adrenal hypoplasia congenital
Orphan nuclear receptor
Fecha de publicación: 2005
Publicación seriada: Human Mutation 
Resumen: X‐linked adrenal hypoplasia congenita (AHC) is a rare developmental disorder associated with primary adrenal insufficiency and combined primary and secondary male hypogonadism. It is caused by deletions or mutations of the NR0B1 (DAX1) gene encoding DAX1, an atypical orphan member of the nuclear receptor superfamily. The continuous molecular genetic analysis of male patients with primary adrenal insufficiency revealed 13 novel mutations within the coding region of the NR0B1 gene which are predicted to inactivate the DAX1 function. These were three nonsense mutations (c.312C>A, p.Cys104X, c.670C>T, p.Gln224X; and c.873G>A, p.Trp291X), five duplications (c.269lowbar;270dup, c.421lowbar;422dup, c.895lowbar;896dup, c.989dup, c.999lowbar;1000dup), and five deletions (c.483del, c.745lowbar;746del, c.734lowbar;740del, c.1092del, and c.1346del). All of the mutations resulted in a premature stop codon destroying the ligand binding domain of the predictive DAX1 protein.
URI: http://hdl.handle.net/10553/107132
ISSN: 1059-7794
DOI: 10.1002/humu.9331
Fuente: Human Mutation [ISSN 1059-7794], v. 25 (5), p. 502-502
Colección:Artículos
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