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  • The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    Author
    van Bon, Bregje
    Koolen, David
    Brueton, Louise
    McMullan, Dominic
    Lichtenbelt, Klaske
    Ades, Lesley
    Peters, Gregory
    Gibson, Kate
    Moloney, Susan
    Novara, Francesca
    Pramparo, Tiziano
    Bernardina, Bernardo Dalla
    Zoccante, Leonardo
    Balottin, Umberto
    Piazza, Fausta
    Pecile, Vanna
    Gasparini, Paolo
    Guerci, Veronica
    Kets, Marleen
    Pfundt, Rolph
    de Brouwer, Arjan
    Veltman, Joris
    Leeuw, Nicole
    Wilson, Meredith
    Antony, Jayne
    Reitano, Santina
    Luciano, Daniela
    Fichera, Marco
    Romano, Corrado
    Brunner, Han
    Zuffardi, Orsetta
    de Vries, Bert
    Year published
    2010
    Metadata
    Show full item record
    Abstract
    Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly ...
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    Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith-Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett's syndrome. Another gene in the 2q23.1 region, EPC2, was deleted in 12 patients who had a broader phenotype than those with a deletion of MBD5 only. EPC2 is a member of the polycomb protein family, involved in heterochromatin formation and might be involved in causing MR. Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems.
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    Journal Title
    European Journal of Human Genetics
    Volume
    18
    DOI
    https://doi.org/10.1038/ejhg.2009.152
    Subject
    Medical and Health Sciences not elsewhere classified
    Publication URI
    http://hdl.handle.net/10072/34643
    Collection
    • Journal articles

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