@article{976d0e10538543e6abb406e71bc85044,
title = "SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile",
abstract = "Purpose: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. Methods: Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and international data sharing. Deep clinical phenotyping was undertaken by referring clinicians. Blood DNA methylation was assessed using Infinium MethylationEPIC array. The expression pattern of SOX11 in developing human brain was defined using RNAscope. Results: We reported 38 new patients with SOX11 variants. Idiopathic hypogonadotropic hypogonadism was confirmed as a feature of SOX11 syndrome. A distinctive pattern of blood DNA methylation was identified in SOX11 syndrome, separating SOX11 syndrome from other BAFopathies. Conclusion: SOX11 syndrome is a distinct clinical entity with characteristic clinical features and episignature differentiating it from BAFopathies.",
keywords = "Exome, Genome sequencing, Hypogonadism, Methylation, Neurodevelopmental disorder, SOX11",
author = "{University of Washington Centre for Mendelian Genomics (UW-CMG)} and {Genomics England Research Consortium} and Reem Al-Jawahiri and Aidin Foroutan and Jennifer Kerkhof and Haley McConkey and Michael Levy and Sadegheh Haghshenas and Kathleen Rooney and Jasmin Turner and Debbie Shears and Muriel Holder and Henrietta Lefroy and Bruce Castle and Reis, {Linda M.} and Semina, {Elena V.} and Deborah Nickerson and Michael Bamshad and Suzanne Leal and Katherine Lachlan and Kate Chandler and Thomas Wright and Jill Clayton-Smith and Hug, {Franziska Phan} and Nelly Pitteloud and Lucia Bartoloni and Sabine Hoffjan and Park, {Soo Mi} and Ajay Thankamony and Melissa Lees and Emma Wakeling and Swati Naik and Britta Hanker and Girisha, {Katta M.} and Emanuele Agolini and Zampino Giuseppe and Ziegler Alban and Marine Tessarech and Boris Keren and Alexandra Afenjar and Christiane Zweier and Andre Reis and Thomas Smol and Yoshinori Tsurusaki and Okamoto Nobuhiko and Futoshi Sekiguchi and Naomi Tsuchida and Naomichi Matsumoto and Ikuyo Kou and Yoshiro Yonezawa and Shiro Ikegawa and Bert Callewaert",
note = "Publisher Copyright: {\textcopyright} 2022 The Authors",
year = "2022",
month = jun,
doi = "10.1016/j.gim.2022.02.013",
language = "English",
volume = "24",
pages = "1261--1273",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "6",
}