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  1. Artikel ; Online: A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

    Gazdagh, Gabriella / Mawby, Rebecca / Self, Jay E / Baralle, Diana

    American journal of medical genetics. Part A

    2021  Band 188, Heft 3, Seite(n) 900–906

    Abstract: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital syndrome characterized by a range of phenotypes including optic atrophy and intellectual disability among other features. Pathogenic variants in the NR2F1 (nuclear receptor ... ...

    Abstract Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital syndrome characterized by a range of phenotypes including optic atrophy and intellectual disability among other features. Pathogenic variants in the NR2F1 (nuclear receptor subfamily 2 group F member 1) gene have been linked to this condition. A recent report has shown that pathogenic variants in the start codon lead to decreased expression of the NR2F1 protein and a relatively mild phenotype, similar to that seen in whole gene deletions, and due to the lack of the dominant negative effect. Here we describe a severe case of BBSOAS with an initiation codon missense variant. The developmental delay, seizures, optic atrophy are in keeping with features observed in this condition, however this is the first report to describe colobomas and septo-optic dysplasia as associated features potentially extending the phenotype linked to BBSOAS. In addition, this is the first description of a severe phenotype linked to a de novo missense variant in the start codon of the NR2F1 gene.
    Mesh-Begriff(e) COUP Transcription Factor I/genetics ; Codon, Initiator ; Coloboma/genetics ; Humans ; Intellectual Disability/genetics ; Optic Atrophies, Hereditary/genetics ; Optic Atrophy/diagnosis ; Optic Atrophy/genetics ; Septo-Optic Dysplasia/diagnosis ; Septo-Optic Dysplasia/genetics
    Chemische Substanzen COUP Transcription Factor I ; Codon, Initiator ; NR2F1 protein, human
    Sprache Englisch
    Erscheinungsdatum 2021-11-17
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62569
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Artikel ; Online: Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

    Barbosa, Sónia / Greville-Heygate, Stephanie / Bonnet, Maxime / Godwin, Annie / Fagotto-Kaufmann, Christine / Kajava, Andrey V / Laouteouet, Damien / Mawby, Rebecca / Wai, Htoo Aung / Dingemans, Alexander J M / Hehir-Kwa, Jayne / Willems, Marjorlaine / Capri, Yline / Mehta, Sarju G / Cox, Helen / Goudie, David / Vansenne, Fleur / Turnpenny, Peter / Vincent, Marie /
    Cogné, Benjamin / Lesca, Gaëtan / Hertecant, Jozef / Rodriguez, Diana / Keren, Boris / Burglen, Lydie / Gérard, Marion / Putoux, Audrey / Cantagrel, Vincent / Siquier-Pernet, Karine / Rio, Marlene / Banka, Siddharth / Sarkar, Ajoy / Steeves, Marcie / Parker, Michael / Clement, Emma / Moutton, Sébastien / Tran Mau-Them, Frédéric / Piton, Amélie / de Vries, Bert B A / Guille, Matthew / Debant, Anne / Schmidt, Susanne / Baralle, Diana

    American journal of human genetics

    2020  Band 106, Heft 3, Seite(n) 338–355

    Abstract: The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton remodeling. Pathogenic variants in ...

    Abstract The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton remodeling. Pathogenic variants in TRIO are associated with neurodevelopmental diseases, including intellectual disability (ID) and autism spectrum disorders (ASD). Here, we report the largest international cohort of 24 individuals with confirmed pathogenic missense or nonsense variants in TRIO. The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1. Although all individuals in this cohort present with developmental delay and a neuro-behavioral phenotype, individuals with a pathogenic variant in the seventh spectrin repeat have a more severe ID associated with macrocephaly than do most individuals with GEFD1 variants, who display milder ID and microcephaly. Functional studies show that the spectrin and GEFD1 variants cause a TRIO-mediated hyper- or hypo-activation of RAC1, respectively, and we observe a striking correlation between RAC1 activation levels and the head size of the affected individuals. In addition, truncations in TRIO GEFD1 in the vertebrate model X. tropicalis induce defects that are concordant with the human phenotype. This work demonstrates distinct clinical and molecular disorders clustering in the GEFD1 and seventh spectrin repeat domains and highlights the importance of tight control of TRIO-RAC1 signaling in neuronal development.
    Mesh-Begriff(e) Amino Acid Sequence ; Cohort Studies ; Female ; Guanine Nucleotide Exchange Factors/chemistry ; Guanine Nucleotide Exchange Factors/genetics ; HEK293 Cells ; Humans ; Male ; Mutation ; Neurodevelopmental Disorders/genetics ; Phenotype ; Protein Serine-Threonine Kinases/chemistry ; Protein Serine-Threonine Kinases/genetics ; Sequence Homology, Amino Acid ; rac1 GTP-Binding Protein/metabolism
    Chemische Substanzen Guanine Nucleotide Exchange Factors ; RAC1 protein, human ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; TRIO protein, human (EC 2.7.11.1) ; rac1 GTP-Binding Protein (EC 3.6.5.2)
    Sprache Englisch
    Erscheinungsdatum 2020-02-27
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2020.01.018
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 107: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

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