TY  - JOUR
PY  - 2007//
TI  - A W148R mutation in the human FOXD4 gene segregating with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality
JO  - International journal of molecular medicine
A1  - Minoretti, Piercarlo
A1  - Arra, Mariarosa
A1  - Emanuele, Enzo
A1  - Olivieri, Valentina
A1  - Aldeghi, Alessia
A1  - Politi, P.
A1  - Martinelli, Valentina
A1  - Pesenti, Sara
A1  - Falcone, Colomba
SP  - 369
EP  - 372
VL  - 19
IS  - 3
N2  - The forkhead/winged helix box (FOX) gene family comprises at least 43 different genes encoding transcriptional factors with a highly conserved DNA-binding domain. To date, mutations in members of the FOX gene family have been causally linked to a variety of different human diseases. We describe a three-generation Albanian pedigree in which a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality is segregated with a missense mutation (W148R) in the human FOXD4 gene. This mutation disrupts an extremely highly conserved tryptophan residue in the forkhead domain of FOXD4, possibly resulting in reduced DNA binding capacity and altered transcriptional activity. Our present findings widen the spectrum of diseases associated with genetic aberrations in the forkhead gene family.<p />  <p>Language: en</p>
LA  - en
SN  - 1107-3756
UR  - http://dx.doi.org/
ID  - ref1
ER  -