干旱区生态环境知识资源中心(Arid): Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

Arid

DOI	10.1038/s41431-021-00968-w
	Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
	Ghaffar, Amama; Rasheed, Faiza; Rashid, Muhammad; van Bokhoven, Hans; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima
通讯作者	Riazuddin, S (corresponding author), Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA. ; Riazuddin, S (corresponding author), Univ Maryland, Sch Med, Dept Biochem & Mol Biol, Baltimore, MD 21201 USA.
来源期刊	EUROPEAN JOURNAL OF HUMAN GENETICS
ISSN	1018-4813
EISSN	1476-5438
出版年	2022
英文摘要	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.
类型	Article
语种	英语
收录类别	SCI-E
WOS记录号	WOS:000715661800001
WOS关键词	TRANSCRIPTION ; EXPRESSION ; DIVERSITY ; FAMILY ; GENE
WOS类目	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS研究方向	Biochemistry & Molecular Biology ; Genetics & Heredity
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/367696
作者单位	[Ghaffar, Amama; Ahmed, Zubair M.; Riazuddin, Saima] Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA; [Ghaffar, Amama; Rasheed, Faiza; Rashid, Muhammad] Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan; [van Bokhoven, Hans] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HE Nijmegen, Netherlands; [Ahmed, Zubair M.; Riazuddin, Saima] Univ Maryland, Sch Med, Dept Biochem & Mol Biol, Baltimore, MD 21201 USA; [Riazuddin, Sheikh] Univ Hlth Sci, Allama Iqbal Med Coll, Jinnah Burn & Reconstruct Surg Ctr, Lahore, Pakistan
推荐引用方式 GB/T 7714	Ghaffar, Amama,Rasheed, Faiza,Rashid, Muhammad,et al. Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability[J],2022.
APA	Ghaffar, Amama.,Rasheed, Faiza.,Rashid, Muhammad.,van Bokhoven, Hans.,Ahmed, Zubair M..,...&Riazuddin, Saima.(2022).Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.EUROPEAN JOURNAL OF HUMAN GENETICS.
MLA	Ghaffar, Amama,et al."Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability".EUROPEAN JOURNAL OF HUMAN GENETICS (2022).