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Lookup NU author(s): Jasmin TurnerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
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.
Author(s): Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV, Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M, Kleinendorst L, Donaldson A, Alders M, DePaepe A, Sadikovic B, McNeill A
Publication type: Article
Publication status: Published
Journal: Genetics in Medicine
Year: 2022
Volume: 24
Issue: 6
Pages: 1261-1273
Print publication date: 26/05/2022
Online publication date: 24/03/2022
Acceptance date: 18/02/2022
Date deposited: 23/06/2023
ISSN (electronic): 1098-3600
Publisher: Elsevier
URL: https://doi.org/10.1016/j.gim.2022.02.013
DOI: 10.1016/j.gim.2022.02.013
PubMed id: 35341651
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