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; ... (2022). SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in medicine, 24(6), pp. 1261-1273. Elsevier 10.1016/j.gim.2022.02.013
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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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics |
UniBE Contributor: |
Zweier, Christiane Gertrud |
ISSN: |
1098-3600 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
29 Mar 2022 09:58 |
Last Modified: |
05 Dec 2022 16:17 |
Publisher DOI: |
10.1016/j.gim.2022.02.013 |
PubMed ID: |
35341651 |
Uncontrolled Keywords: |
Exome Genome sequencing Hypogonadism Methylation Neurodevelopmental disorder SOX11 |
BORIS DOI: |
10.48350/168275 |
URI: |
https://boris.unibe.ch/id/eprint/168275 |
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