Open AccessConsolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome
Author(s) -
Marco Angelozzi,
Anirudha Karvande,
Arnaud Molin,
Alyssa Ritter,
Jacqueline Leonard,
Juliann M. Savatt,
Kristen Douglass,
Scott M. Myers,
Mina Grippa,
Dara Tolchin,
Elaine H. Zackai,
Sarah Donoghue,
Anna Hurst,
Maria Descartes,
Kirstin Smith,
Danita Velasco,
Andrew A. Schmanski,
Amy Crunk,
Mari Tokita,
Iris Lange,
Koen van Gassen,
Hannah K. Robinson,
Katie Guegan,
Mohnish Suri,
Chirag Patel,
Marie Bournez,
Laurence Faivre,
Frédéric Tran-Mau-Them,
Janice Baker,
Noelle Fabie,
K. Nicole Weaver,
Amelle Shillington,
Robert J. Hopkin,
Daniela Q.C.M. Barge-Schaapveld,
Claudia Ruivenkamp,
Regina Bökenkamp,
Samantha Schrier Vergano,
María Noelia Seco Moro,
Aránzazu Díaz de Bustamante,
Vinod K. Misra,
Kelly Kennelly,
Caleb Rogers,
Jennifer Friedman,
Kristen Wigby,
Jerica Lenberg,
Claudio Graziano,
Rebecca AhrensNicklas,
Véronique Lefebvre
Publication year - 2022
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2021-108375
Subject(s) - missense mutation , haploinsufficiency , biology , genetics , neurodevelopmental disorder , phenotype , bioinformatics , medicine , gene
A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome.