Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 369-372 |
| Number of pages | 4 |
| Journal | International Journal of Molecular Medicine |
| Volume | 19 |
| Issue number | 3 |
| Publication status | Published - Mar 2007 |
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Keywords
- Candidate gene
- Cardiomyopathy
- Forkhead
- Mutation analysis
- Obsessive-compulsive disorder
- Suicidality
ASJC Scopus subject areas
- Genetics
Cite this
A W148R mutation in the human FOXD4 gene segregating with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality. / Minoretti, Piercarlo; Arra, Mariarosa; Emanuele, Enzo; Olivieri, Valentina; Aldeghi, Alessia; Politi, Pierluigi; Martinelli, Valentina; Pesenti, Sara; Falcone, Colomba.
In: International Journal of Molecular Medicine, Vol. 19, No. 3, 03.2007, p. 369-372.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A W148R mutation in the human FOXD4 gene segregating with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality
AU - Minoretti, Piercarlo
AU - Arra, Mariarosa
AU - Emanuele, Enzo
AU - Olivieri, Valentina
AU - Aldeghi, Alessia
AU - Politi, Pierluigi
AU - Martinelli, Valentina
AU - Pesenti, Sara
AU - Falcone, Colomba
PY - 2007/3
Y1 - 2007/3
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.
AB - 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.
KW - Candidate gene
KW - Cardiomyopathy
KW - Forkhead
KW - Mutation analysis
KW - Obsessive-compulsive disorder
KW - Suicidality
UR - http://www.scopus.com/inward/record.url?scp=33947531766&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33947531766&partnerID=8YFLogxK
M3 - Article
C2 - 17273782
AN - SCOPUS:33947531766
VL - 19
SP - 369
EP - 372
JO - International Journal of Molecular Medicine
JF - International Journal of Molecular Medicine
SN - 1107-3756
IS - 3
ER -