The different clinical facets of SYN1-related neurodevelopmental disorders

Autor: Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Roseline Caumes, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Laure Mazzola, Philippe Convers, Laurine Perrin, Amélie Piton, Gert Wiegand, Andrea Accogli, Francesco Brancati, Fabio Benfenati, Nicolas Chatron, David Lewis-Smith, Rhys H. Thomas, Federico Zara, Pasquale Striano, Gaetan Lesca, Christel Depienne

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the

Externí odkaz: https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Autor: Beatrice N. French, Blake C. Ballif, Jill A. Rosenfeld, Santhosh Girirajan, Eric Haan, Jennifer Kussmann, Shane McCarthy, Valerie Banks, Darren Farber, Carl Baker, John B. Moeschler, Alisha Biser, Kathryn Platky, Bhuwan P. Garg, Jonathan Sebat, Rosemarie Smith, Donna M. McDonald-McGinn, Brian L. Browning, Joe J. Hoo, Jennifer Dickerson, Jillian R Ozmore, Yves Lacassie, Urvashi Surti, Luis F. Escobar, Dima El-Khechen, Andy Itsara, Marie T. McDonald, Corrado Romano, Gregory M. Cooper, David D. Weaver, Bonnie A. Salbert, Wendy E. Smith, Tamim H. Shaikh, Lisa G. Shaffer, Paul R. Mark, Sara Ellingwood, Francesca Antonacci, Jeffrey M. Kidd, Alexander Asamoah, Evan E. Eichler, Cindy Hudson, Marco Fichera, Lynn E. DeLisi, Gordon C. Gowans, Jessica J. Wetherbee, Jozef Gecz, Mary Claire King, Elaine H. Zackai, Jerome L. Gorski, Priscillia Siswara, John P. Johnson, Kathryn Friend, Matthew A. Deardorff, Laura Vives, Deborah L. Levy, Sharon R. Browning, Diane E. Dickel, Heather C Mefford, Tom Walsh

Publikováno v: Nature genetics, vol 42, iss 3
Girirajan, S; Rosenfeld, JA; Cooper, GM; Antonacci, F; Siswara, P; Itsara, A; et al.(2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. doi: 10.1038/ng.534. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/89w1x55x
Nature genetics

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab72d0f37e70471594413730c22cfe2b
https://doi.org/10.1038/ng.534

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Autor: Bonnie A. Salbert, Alexander Barrios Sanjuanelo, Alan J. Herr, Edit Horkay, Jennifer Baldwin, Charles Piussan, Fuki M. Hisama, Christian Kubisch, Bhaskar Saha, Katalin Szakszon, W. Ted Brown, Henri Plauchu, Junko Oshima, Davor Lessel, Josef Högel, Pamela D. Steele, Judit Szilvássy, George M. Martin

Publikováno v: Human mutation. 36(11)

Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae973914ef580ac2ca07fe47a9761824
https://pubmed.ncbi.nlm.nih.gov/26172944

Cardiovascular genetics—redefining the role of the clinical geneticist

Autor: Bonnie Anne Salbert

Publikováno v: Progress in Pediatric Cardiology. 18:105-110

In an effort to find a solution for the problem of providing comprehensive genetic services in the current managed care environment, The Golisano Children's Hospital at Strong, University of Rochester Medical Center decided to test a new role for the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a459006f12c4866d7b27f43a90f124e
https://doi.org/10.1016/s1058-9813(03)00083-3

Analysis of Locus Heterogeneity in Waardenburg Syndrome Types 1 and 2 Using Highly Informative Microsatellite Markers

Autor: Wanda Hunt, Jennifer E. Reynolds, Walter E. Nance, Kathleen S. Arnos, L. M. Ploughman, Cathy A. Stevens, B. Landa, Bettie Duke, C J MacLean, Bonnie Anne Salbert, Mary L. Marazita, Laura Wright, Scott R. Diehl

Publikováno v: Human Heredity. 45:243-252

We performed linkage and locus heterogeneity analyses of Waardenburg syndrome (WS) types 1 and 2 using 9 DNA markers from 2q35-q37, including two highly polymorphic microsatellites very closely linked to the PAX3 candidate gene. None of 5 WS type 2 (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bea3baddfeb84aa41d091093f0fb511
https://doi.org/10.1159/000154307