Abstract
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.
Keywords
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Article info
Publication history
Published online: September 28, 2010
Accepted:
August 30,
2010
Received in revised form:
August 30,
2010
Received:
February 3,
2010
Identification
Copyright
© 2010 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
