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3 results on '"Stellacci, Emilia"'

2. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Author

Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Pedace, Lucia, Boer, Elke, Jackson, Adam, Stellacci, Emilia, Lo Cicero, Stefania, Dentici, Maria Lisa, Mcwalter, Kirsty, Sanchez-Lara, Pedro A., Lindstrom, Kristin, Madan-Khetarpal, Suneeta, Mackenzie, Jennifer J., Monteleone, Berrin, Zhou, Dihong, Sawyer, Sarah L., Monteiro, Fabiola Paoli, Macke, Erica L., Maria Iascone, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Stals, Karen, Cabet, Sara, Steindl, Katharina, Weiss, Karin, Castle, Alison M. R., Kalsner, Louisa, Chandler, Kate E., Sheehan, Willow, Shinde, Deepali N., Goodloe, Dana, Bluske, Krista, Faletra, Flavio, Kurtz-Nelson, Evangeline C., Anderlid, Britt-Marie, Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E. L. M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, and Tartaglia, Marco

3. Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

Author

Katharina Steindl, Pascal Joset, Laura Gogoll, Laura Mercurio, Markus Zweier, Emilia Stellacci, Serena Cecchetti, Massimiliano Anselmi, Gianfranco Bocchinfuso, Annette Hackenberg, Marco Tartaglia, Lorenzo Stella, Anita Rauch, University of Zurich, and Stellacci, Emilia

Subjects
0301 basic medicine, Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Mutation, Missense, 610 Medicine & health, Nerve Tissue Proteins, Biology, Gene mutation, 03 medical and health sciences, 1311 Genetics, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Child, Ear Diseases, Genetics (clinical), Exome sequencing, Settore CHIM/02 - Chimica Fisica, Comparative Genomic Hybridization, Macrocephaly, Genetic disorder, Calcinosis, Zinc Fingers, Microdeletion syndrome, Primrose syndrome, medicine.disease, Muscular Atrophy, 030104 developmental biology, 10036 Medical Clinic, Child, Preschool, 570 Life sciences, biology, Female, Chromosomes, Human, Pair 3, medicine.symptom, Chromosome Deletion, Transcription Factors
Abstract

Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transcriptional repressor controlling energetic metabolism and developmental programs. ZBTB20 maps in a genomic region that is deleted in the 3q13.31 microdeletion syndrome, which explains the clinical overlap between the two disorders. A narrow spectrum of amino acid substitutions in a restricted region of ZBTB20 encompassing the first and second zinc-finger motifs have been reported thus far. Here, we characterize clinically and functionally the first truncating mutation [(c.1024delC; p.(Gln342Serfs*42)] and a missense change affecting the third zinc-finger motif of the protein [(c.1931C > T; p.(Thr644Ile)]. Our data document that both mutations have dominant negative impact on wild-type ZBTB20, providing further evidence of the specific behavior of PS-causing mutations on ZBTB20 function.

Published
2018

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