SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Options
BORIS DOI
Publisher DOI
PubMed ID
35341651
Description
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.
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.
Date of Publication
2022-06
Publication Type
Article
Keyword(s)
Exome Genome sequencing Hypogonadism Methylation Neurodevelopmental disorder SOX11
Language(s)
en
Contributor(s)
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 | |
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 |
Additional Credits
Series
Genetics in medicine
Publisher
Elsevier
ISSN
1098-3600
Access(Rights)
restricted