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      The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations

      case-report

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          Abstract

          We report ten sporadic cases of Brazilian patients with facial midline defects, callosal agenesis, basal encephalocele, and ocular anomalies. This very rare cluster of anomalies has been well reported before. However, only until recently it is recognized as a syndrome belonging to frontonasal dysplasia spectrum. The ten cases confirm a distinct clinical entity and help to define the phenotype more precisely than previously. Up to now etiology remains unknown, although we conjecture that it is due to a mutation in TGIF gene.

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          Induction of the neural crest: a multigene process.

          Anne K Knecht, Marianne Bronner-Fraser (2002)
          In the embryo, the neural crest is an important population of cells that gives rise to diverse derivatives, including the peripheral nervous system and the craniofacial skeleton. Evolutionarily, the neural crest is of interest as an important innovation in vertebrates. Experimentally, it represents an excellent system for studying fundamental developmental processes, such as tissue induction. Classical embryologists have identified interactions between tissues that lead to neural crest formation. More recently, geneticists and molecular biologists have identified the genes that are involved in these interactions; this recent work has revealed that induction of the neural crest is a complex multistep process that involves many genes.
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            Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.

            L Ades, N. C. Edwards, M Muenke … (2000)
            Holoprosencephaly (HPE) is the most common structural defect of the developing forebrain in humans (1 in 250 conceptuses, 1 in 16,000 live-born infants). HPE is aetiologically heterogeneous, with both environmental and genetic causes. So far, three human HPE genes are known: SHH at chromosome region 7q36 (ref. 6); ZIC2 at 13q32 (ref. 7); and SIX3 at 2p21 (ref. 8). In animal models, genes in the Nodal signalling pathway, such as those mutated in the zebrafish mutants cyclops (refs 9,10), squint (ref. 11) and one-eyed pinhead (oep; ref. 12), cause HPE. Mice heterozygous for null alleles of both Nodal and Smad2 have cyclopia. Here we describe the involvement of the TG-interacting factor (TGIF), a homeodomain protein, in human HPE. We mapped TGIF to the HPE minimal critical region in 18p11.3. Heterozygous mutations in individuals with HPE affect the transcriptional repression domain of TGIF, the DNA-binding domain or the domain that interacts with SMAD2. (The latter is an effector in the signalling pathway of the neural axis developmental factor NODAL, a member of the transforming growth factor-beta (TGF-beta) family.) Several of these mutations cause a loss of TGIF function. Thus, TGIF links the NODAL signalling pathway to the bifurcation of the human forebrain and the establishment of ventral midline structures.
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              Molecular mechanisms of holoprosencephaly.

              Jonathan D. Wallis, M Muenke (1999)
              Holoprosencephaly (HPE) is the most common developmental defect of the forebrain in humans. Several distinct human genes for holoprosencephaly have now been identified. They include Sonic hedgehog (SHH), ZIC2, and SIX3. Many additional genes involved in forebrain development are rapidly being cloned and characterized in model vertebrate organisms. These include Patched (Ptc), Smoothened (Smo), cubitus interuptus (ci)/Gli, wingless (wg/Wnt, decapentaplegic (dpp)/BMP, Hedgehog interacting protein (Hip), nodal, Smads, One-eyed pinhead (Oep), and TG-Interacting Factor (TGIF). However, further analysis is needed before their roles in HPE can be established. Here we present an overview of the presently known genes causing human holoprosencephaly and describe candidate genes involved in forebrain development identified in other systems. A model is discussed for how these genes may interact within and between several different signaling pathways to direct the formation of the forebrain. Copyright 1999 Academic Press.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Med Sci
                Journal ID (publisher-id): ijms
                Title: International Journal of Medical Sciences
                Publisher: Ivyspring International Publisher (Sydney, Australia )
                ISSN (Electronic): 1449-1907
                Publication date Collection: 2004
                Publication date (Electronic): 10 March 2004
                Volume: 1
                Issue: 1
                Pages: 34-42
                Affiliations
                Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru-SP, Brasil
                Author notes
                Corresponding address: Antonio Richieri-Costa, MD, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Rua Silvio Marchione 3-20, CEP 17012-230, SP, Bauru, Brasil. Phone: (Int+55) (14) 3235 8183. Fax: (Int+55) (14) 3234 7818. richieri@ 123456usp.br

                Conflict of interest: The authors have declared that no conflict of interest exists.

                Article
                Publisher ID: ijmsv01p0034
                DOI: 10.7150/ijms.1.34
                PMC ID: 1074508
                PubMed ID: 15912188
                SO-VID: a6f1105d-4e21-4ce5-a18f-28c15e3a61fa
                Copyright © © Ivyspring International Publisher. This is an open access article. Distribution or copying is permitted, provided that the article is in whole, unmodified, and properly cited.
                History
                Date received : 16 February 2004
                Date accepted : 3 March 2004
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Medicine
                Keywords: morning glory syndrome,frontonasal dysplasia,cns midline anomalies
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: morning glory syndrome, frontonasal dysplasia, cns midline anomalies

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