caa a22 4500 445364785 CHVBK 20180317142926.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s10048-011-0275-8 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0275-8 C4ORF48 , a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development [Elektronische Daten] [Sabine Endele, Claudia Nelkenbrecher, Annegret Bördlein, Stefanie Schlickum, Andreas Winterpacht] In order to identify novel genes involved in mental retardation/intellectual disability, we focused on a microdeletion reported in a patient with a mild form of Wolf-Hirschhorn syndrome. This patient presented with attention-deficit hyperactivity disorder, some learning and fine motor deficits as well as facial abnormalities. The deleted region included three genes. Here, we report the first characterization of one of these genes, C4ORF48. C4ORF48 encodes a short (139 aa) evolutionarily conserved protein with a predicted signal peptide and two potential dibasic convertase cleavage sites. In mice, we demonstrated expression of the corresponding protein exclusively in brain tissue using an anti-mouse C4Orf48 polyclonal antibody. Detailed RNA in situ hybridization experiments revealed expression of C4Orf48 in different zones during cortical and cerebellar development, as well as in almost all cortical and subcortical regions of the adult mouse brain. Based on the present data, we propose that C4Orf48 probably encodes a novel neuropeptide, which, if hemizygously deleted, may be involved in the observed intellectual and fine motor disabilities and thus in the overall neurological aspects of Wolf-Hirschhorn syndrome. Springer-Verlag, 2011 Wolf-Hirschhorn syndrome nationallicence Mental retardation/intellectual disability nationallicence Neuropeptide nationallicence Endele Sabine Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut Nelkenbrecher Claudia Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut Bördlein Annegret Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut Schlickum Stefanie Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut Winterpacht Andreas Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut neurogenetics Springer-Verlag 12/2(2011-05-01), 155-163 1364-6745 12:2<155 2011 12 10048 https://doi.org/10.1007/s10048-011-0275-8 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0275-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Endele Sabine Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut NATIONALLICENCE 700 1- Nelkenbrecher Claudia Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut NATIONALLICENCE 700 1- Bördlein Annegret Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut NATIONALLICENCE 700 1- Schlickum Stefanie Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut NATIONALLICENCE 700 1- Winterpacht Andreas Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/2(2011-05-01), 155-163 1364-6745 12:2<155 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer