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    Intellectual disability (ID) represents an extremely heterogeneous group of disorders, characterized by significant limitations in intellectual function and adaptive behavior. Among the monogenic causes, autosomal recessive genes (ARID) are responsible for more than 50% of ID. Here, we report a novel in-frame homozygous deletion variant [c.730_753del; p.(Ala244_Gly251del)] in SOX4 (sex-determining region Y-related high-mobility group box 4), segregating with moderate to severe ID, hypotonia, and developmental delay in a Pakistani family. Our identified variant p.(Ala244_Gly251del) is predicted to remove evolutionarily conserved residues from the interdomain region and may destabilize the protein secondary structure. SOX4 belongs to group C of the SOX transcription regulating family known to be involved in early embryo development. Single-cell RNA data analysis of developing telencephalon revealed highly overlapping expression of SOX4 with SOX11 and DCX, known neurogenesis regulators. Our study expands the mutational landscape of SOX4 and the repertoire of the known genetic causes of ARID. © 2021. The Author(s), under exclusive licence to European Society of Human Genetics.


    Amama Ghaffar, Faiza Rasheed, Muhammad Rashid, Hans van Bokhoven, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin. Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability. European journal of human genetics : EJHG. 2022 Feb;30(2):243-247

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    PMID: 34750527

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