caa a22 4500 445364610 CHVBK 20180317142926.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s10048-011-0283-8 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0283-8 FGF17 , a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion [Elektronische Daten] [Ginevra Zanni, Sabina Barresi, Lorena Travaglini, Laura Bernardini, Teresa Rizza, Maria Digilio, Eugenio Mercuri, Stefano Cianfarani, Massimiliano Valeriani, Alessandro Ferraris, Letizia Da Sacco, Antonio Novelli, Enza Valente, Bruno Dallapiccola, Enrico Bertini] Fibroblast growth factors (FGFs) are important signaling molecules which act during early vertebrate central nervous system development. FGF17, together with FGF8, is a key factor in the patterning of the mid-hindbrain region with a complex picture of spatiotemporal gene expression during the various stages of cerebellar development. Disruption or reduced expression of fgf17 in mice has been associated with cerebellar vermis abnormalities. We have identified a de novo 2.3-Mb deletion of chromosome 8p21.2-p21.3 in a girl with severe growth retardation, seizures, and classical Dandy-Walker malformation. Analysis of gene expression in blood lymphocytes and skin fibroblasts revealed markedly reduced levels of FGF17, which is located 1Mb from the proximal deletion breakpoint. This is the first report of a human cerebellar malformation associated with transcriptional downregulation of the FGF17 gene. Springer-Verlag, 2011 FGF17 nationallicence Cerebellum nationallicence Dandy-Walker malformation nationallicence Chromosome 8p nationallicence Zanni Ginevra Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut Barresi Sabina Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut Travaglini Lorena Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut Bernardini Laura Mendel Laboratory, IRRCS Casa Sollievo della sofferenza, San Giovanni Rotondo, Italy aut Rizza Teresa Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut Digilio Maria Unit of Clinical Genetics, Bambino Gesù Pediatric Hospital, Rome, Italy aut Mercuri Eugenio Institute of Pediatric Neurology, Catholic University, Rome, Italy aut Cianfarani Stefano Unit of Molecular Endocrinology, Departement of Pediatrics, Bambino Gesù Pediatric Hospital, Rome, Italy aut Valeriani Massimiliano Unit of Neurology, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, Rome, Italy aut Ferraris Alessandro Mendel Laboratory, IRRCS Casa Sollievo della sofferenza, San Giovanni Rotondo, Italy aut Da Sacco Letizia Gene Expression-Microarray Laboratory, Bambino Gesù Pediatric Hospital, Rome, Italy aut Novelli Antonio Mendel Laboratory, IRRCS Casa Sollievo della sofferenza, San Giovanni Rotondo, Italy aut Valente Enza Mendel Laboratory, IRRCS Casa Sollievo della sofferenza, San Giovanni Rotondo, Italy aut Dallapiccola Bruno Bambino Gesù Pediatric Hospital, Rome, Italy aut Bertini Enrico Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut neurogenetics Springer-Verlag 12/3(2011-08-01), 241-245 1364-6745 12:3<241 2011 12 10048 https://doi.org/10.1007/s10048-011-0283-8 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0283-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Zanni Ginevra Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut NATIONALLICENCE 700 1- Barresi Sabina Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut NATIONALLICENCE 700 1- Travaglini Lorena Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut NATIONALLICENCE 700 1- Bernardini Laura Mendel Laboratory, IRRCS Casa Sollievo della sofferenza, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Rizza Teresa Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut NATIONALLICENCE 700 1- Digilio Maria Unit of Clinical Genetics, Bambino Gesù Pediatric Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Mercuri Eugenio Institute of Pediatric Neurology, Catholic University, Rome, Italy aut NATIONALLICENCE 700 1- Cianfarani Stefano Unit of Molecular Endocrinology, Departement of Pediatrics, Bambino Gesù Pediatric Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Valeriani Massimiliano Unit of Neurology, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Ferraris Alessandro Mendel Laboratory, IRRCS Casa Sollievo della sofferenza, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Da Sacco Letizia Gene Expression-Microarray Laboratory, Bambino Gesù Pediatric Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Novelli Antonio Mendel Laboratory, IRRCS Casa Sollievo della sofferenza, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Valente Enza Mendel Laboratory, IRRCS Casa Sollievo della sofferenza, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Dallapiccola Bruno Bambino Gesù Pediatric Hospital, Rome, Italy aut NATIONALLICENCE 700 1- Bertini Enrico Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165, Rome, Italy aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/3(2011-08-01), 241-245 1364-6745 12:3<241 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer