FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus - PubMed (original) (raw)
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus
S Amorosi et al. Clin Genet. 2008 Apr.
Abstract
The forkhead, Fox, gene family comprises a diverse group of 'winged-helix' transcription factors that play important roles in development, metabolism, cancer and aging. Recently, several forkhead genes have been demonstrated to play critical roles in lymphocyte development and effector functions. Alterations of the FOXN1 gene in both mice and humans result in a severe combined immunodeficiency caused by an intrinsic defect of the thymus associated with congenital alopecia (Nude/severe combined immunodeficiency phenotype). FOXN1 is a member of the class of proteins involved in the development and differentiation of the central nervous system. We identified a human fetus homozygous for a mutation in FOXN1 gene who lacked the thymus and also had abnormal skin, anencephaly and spina bifida. Moreover, we found that FOXN1 gene is expressed in mouse developing choroid plexus. These observations suggest that FOXN1 may be involved in neurulation in humans.
Similar articles
- Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation.
Amorosi S, Vigliano I, Del Giudice E, Panico L, Maruotti GM, Fusco A, Quarantelli M, Ciccone C, Ursini MV, Martinelli P, Pignata C. Amorosi S, et al. J Neurol Sci. 2010 Nov 15;298(1-2):121-3. doi: 10.1016/j.jns.2010.08.066. J Neurol Sci. 2010. PMID: 20864124 - Human clinical phenotype associated with FOXN1 mutations.
Pignata C, Fusco A, Amorosi S. Pignata C, et al. Adv Exp Med Biol. 2009;665:195-206. Adv Exp Med Biol. 2009. PMID: 20429426 Review. - FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.
Gallo V, Cirillo E, Giardino G, Pignata C. Gallo V, et al. J Clin Immunol. 2017 Nov;37(8):751-758. doi: 10.1007/s10875-017-0445-z. Epub 2017 Sep 21. J Clin Immunol. 2017. PMID: 28932937 Review. - FOXN1 mutation abrogates prenatal T-cell development in humans.
Vigliano I, Gorrese M, Fusco A, Vitiello L, Amorosi S, Panico L, Ursini MV, Calcagno G, Racioppi L, Del Vecchio L, Pignata C. Vigliano I, et al. J Med Genet. 2011 Jun;48(6):413-6. doi: 10.1136/jmg.2011.089532. Epub 2011 Apr 19. J Med Genet. 2011. PMID: 21507891 - FOXN1 in organ development and human diseases.
Palamaro L, Romano R, Fusco A, Giardino G, Gallo V, Pignata C. Palamaro L, et al. Int Rev Immunol. 2014 Mar;33(2):83-93. doi: 10.3109/08830185.2013.870171. Epub 2014 Jan 17. Int Rev Immunol. 2014. PMID: 24432845 Review.
Cited by
- Induction of Thymus Atrophy and Disruption of Thymocyte Development by Fipronil through Dysregulation of IL-7-Associated Genes.
Kuo JF, Wu HY, Tung CW, Huang WH, Lin CS, Wang CC. Kuo JF, et al. Chem Res Toxicol. 2024 Sep 16;37(9):1488-1500. doi: 10.1021/acs.chemrestox.4c00060. Epub 2024 Aug 14. Chem Res Toxicol. 2024. PMID: 39141674 Free PMC article. - Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y, Vong L, Merico D, Abrego Fuentes L, Scott O, Sham M, Fraser M, Watts-Dickens A, Willett Pachul J, Kim VHD, Marshall CR, Scherer S, Roifman CM. Pasternak Y, et al. J Allergy Clin Immunol Glob. 2024 Apr 23;3(3):100267. doi: 10.1016/j.jacig.2024.100267. eCollection 2024 Aug. J Allergy Clin Immunol Glob. 2024. PMID: 38800615 Free PMC article. - Exome-wide analysis implicates rare protein-altering variants in human handedness.
Schijven D, Soheili-Nezhad S, Fisher SE, Francks C. Schijven D, et al. Nat Commun. 2024 Apr 2;15(1):2632. doi: 10.1038/s41467-024-46277-w. Nat Commun. 2024. PMID: 38565598 Free PMC article. - The impact of the gut microbiota on T cell ontogeny in the thymus.
Hebbandi Nanjundappa R, Sokke Umeshappa C, Geuking MB. Hebbandi Nanjundappa R, et al. Cell Mol Life Sci. 2022 Apr 4;79(4):221. doi: 10.1007/s00018-022-04252-y. Cell Mol Life Sci. 2022. PMID: 35377005 Free PMC article. Review. - Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.
Tamkeen N, AlOmar SY, Alqahtani SAM, Al-Jurayyan A, Farooqui A, Tazyeen S, Ahmad N, Ishrat R. Tamkeen N, et al. Front Genet. 2021 Apr 6;12:597983. doi: 10.3389/fgene.2021.597983. eCollection 2021. Front Genet. 2021. PMID: 33889172 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
- R01 AR045284/AR/NIAMS NIH HHS/United States
- R01 AR045284-10/AR/NIAMS NIH HHS/United States
- R01 AR055218/AR/NIAMS NIH HHS/United States
- R01 AR055218-01A1/AR/NIAMS NIH HHS/United States
LinkOut - more resources
Full Text Sources
Medical