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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

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.

Publication metadata

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


DOI: 10.1016/j.gim.2022.02.013

PubMed id: 35341651


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