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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic

Reem Al-Jawahiri¹, Aidin Foroutan², Jennifer Kerkhof²

¹Department of Psychology, The University of Sheffield, Sheffield, United Kingdom.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|March 28, 2022

Abstract

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.

Keywords:

Exome Genome sequencing Hypogonadism Methylation Neurodevelopmental disorder SOX11

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