A critical role of the FOX transcription factors in the development of different tissues has been shown. Among these genes, FOXN1 encodes a protein whose alteration is responsible for the Nude/SCID phenotype. Recently, our group reported on a human Nude/SCID fetus, which also had severe neural tube defects, namely anencephaly and spina bifida. This led to hypothesize that FOXN1 could have a role in the early stages of central nervous system development. Here we report on a second fetus that carried the R255X homozygous mutation in FOXN1 that has been examined for the presence of CNS developmental anomalies. At 16 postmenstrual weeks of gestation, the abdominal ultrasonography of the Nude/SCID fetus revealed a morphologically normal brain, but with absence of cavum septi pellucidi (CSP). Moreover, after confirmation of the diagnosis of severe Nude/SCID, the fetus was further examined postmortem and a first gross examination revealed an enlargement of the interhemispheric fissure. Subsequently, a magnetic resonance imaging failed to identify the corpus callosum in any section. In conclusion, our observations did not reveal any gross abnormalities in the CNS anatomy of the Nude/SCID fetus, but alteration of the corpus callosum, suggesting that FOXN1 alterations could play a role as a cofactor in CNS development in a similar fashion to other FOX family members.
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- Fox's in development and disease.Trends Genet. 2003; 19: 339-344
- New member of the winged-helix protein family disrupted in mouse and rat nude mutations.Nature. 1994; 372: 103-107
- Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs.Am J Med Genet. 1996; 65: 167-170
- FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.Clin Genet. 2008; 73: 380-384
- Transabdominal sonography of the cavum septum pellucidum in normal fetuses in the second and third trimesters of pregnancy.Ultrasound Obstet Gynecol. 2000; 16: 549-553
- Laminar organization of the human fetal cerebrum revealed by histochemical markers and magnetic resonance imaging.Cereb Cortex. 2002; 12: 536-544
- In vitro MRI of brain development.Eur J Radiol. 2006; 57: 187-198
- Hox repertoires for motor neuron diversity and connectivity gated by a single accessory factor, FoxP1.Cell. 2008; 134: 304-316
- Coordinated actions of the forkhead protein Foxp1 and Hox proteins in the columnar organization of spinal motor neurons.Neuron. 2008; 59: 226-240
- A zebrafish orthologue (whnb) of the mouse nude gene is expressed in the epithelial compertment of the embryonic thymic rudiment.Mech Dev. 2002; 118: 179-185
- Genetic interplays between Msx2 and FOXN1 are required for Notch1 expression and hair shaft differentiation.Dev Biol. 2009; 326: 420-430
- Notch signaling: control of cell comunication and cell fate.Development. 2004; 131: 965-973
Published online: September 28, 2010
Accepted: August 30, 2010
Received in revised form: August 30, 2010
Received: February 3, 2010
© 2010 Elsevier B.V. Published by Elsevier Inc. All rights reserved.