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Inappropriate tall stature and renal ectopy in a male patient with X‐linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX‐1 gene
Author(s) -
Franzese Adriana,
BrunettiPierri Nicola,
Spadaro Raffaella,
Mukai Tokuo,
Valerio Giuliana
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30670
Subject(s) - missense mutation , hypoplasia , mutation , short stature , medicine , endocrinology , genetics , gene , biology , pediatrics
Abstract Mutations in DAX‐1 gene cause congenital adrenal hypoplasia (AHC). We present a male patient affected by X‐linked adrenal hypoplasia congenita due to a novel DAX‐1 missense mutation. The mutation V287G affects the C‐terminal end of the DAX‐1 protein which plays an important role in functioning of the receptor. In addition, our patient presented an inappropriate tall stature and renal ectopy, which have not been described in AHC so far. © 2005 Wiley‐Liss, Inc.