Article
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2022
Al-Jawahiri Reem, Foroutan Aidin, Kerkhof Jennifer, McConkey Haley, Levy Michael, Haghshenas Sadegheh, Rooney Kathleen, Turner Jasmin, Shears Debbie, Holder Muriel, Lefroy Henrietta, Castle Bruce, Reis Linda M, Semina Elena V, Lachlan Katherine, Chandler Kate, Wright Thomas, Clayton-Smith Jill, Hug Franziska Phan, Pitteloud Nelly, Bartoloni Lucia, Hoffjan Sabine, Park Soo-Mi, Thankamony Ajay, Lees Melissa, Wakeling Emma, Naik Swati, Hanker Britta, Girisha Katta M, Agolini Emanuele, Giuseppe Zampino, Alban Ziegler, Tessarech Marine, Keren Boris, Afenjar Alexandra, Zweier Christiane, Reis Andre, Smol Thomas, Tsurusaki Yoshinori, Nobuhiko Okamoto, Sekiguchi Futoshi, Tsuchida Naomi, Matsumoto Naomichi, Kou Ikuyo, Yonezawa Yoshiro, Ikegawa Shiro, Callewaert Bert, Freeth Megan, Kleinendorst Lotte, Donaldson Alan, Alders Marielle, De Paepe Anne, Sadikovic Bekim, McNeill Alisdair
Abstract excerpt
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...
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