SOX5
Homo sapiens
Gene Name: SRY-box 5
Aliases: L-SOX5, MGC35153
Chromosome No: 12
Chromosome Band: 12p12.1
Genetic Category: Rare single gene variant--Syndromic-Genetic association-Syndromic/Functional-Rare single gene variant/Functional
Associated Syndrome(s): Lamb-Shaffer syndrome
Aliases: L-SOX5, MGC35153
Chromosome No: 12
Chromosome Band: 12p12.1
Genetic Category: Rare single gene variant--Syndromic-Genetic association-Syndromic/Functional-Rare single gene variant/Functional
Associated Syndrome(s): Lamb-Shaffer syndrome
Summary Statistics:
ASD Reports: 27
Recent Reports: 3
Annotated variants: 85
Associated CNVs: 14
Evidence score: 4
ASD Reports: 27
Recent Reports: 3
Annotated variants: 85
Associated CNVs: 14
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
Intragenic SOX5 deletions have been identified in an individual with ASD and individuals with developmental delay/intellectual disability (Rosenfeld et al. 2010; Lamb et al., 2012).
Molecular Function
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD
ID, cognitive impairment
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD
Support
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
DD, ID, epilepsy/seizures
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency
Lamb-Shaffer syndrome
Support
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Support
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
Lamb-Shaffer syndrome
ID, autistic features
Support
Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features.
Support
Risperidone-Induced Paradoxical Agitation in a Child With Lamb-Shaffer Syndrome, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder: A Case Report
Lamb-Shaffer syndrome, ASD, ADHD
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
DD, epilepy/seizures, microcephaly
Support
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.
ID
Support
Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ASD
Support
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic...
DD, ID
ASD, ADHD
Support
Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene
Lamb-Shaffer syndrome, ASD, DD, ID, epilepsy/seizu
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Recent Recommendation
Lamb-Shaffer syndrome, DD, ID
ASD or autistic features, ADHD
Recent Recommendation
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Lamb-Shaffer syndrome
ASD
Recent Recommendation
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN366R030
stop_gained
c.518G>A
p.Trp173Ter
Familial
Maternal
Multi-generational
GEN366R033
stop_gained
c.637C>T
p.Arg213Ter
De novo (germline mosaicism)
Multiplex
GEN366R035
frameshift_variant
c.747_748del
p.Arg250ThrfsTer36
Unknown
Simplex
GEN366R037
stop_gained
c.1411C>T
p.Arg471Ter
Familial
Maternal
Multi-generational
GEN366R044
missense_variant
c.1678A>G
p.Met560Val
De novo
Multi-generational
GEN366R048
missense_variant
c.1348C>T
p.Arg450Trp
De novo
Multi-generational
GEN366R050
missense_variant
c.1711C>T
p.Arg571Trp
De novo (germline mosaicism)
Multiplex
GEN366R066
frameshift_variant
c.1616_1617del
p.Glu539ValfsTer5
De novo
Multiplex (monozygotic twins)
GEN366R071
stop_gained
c.637C>T
p.Arg213Ter
De novo
Multiplex (monozygotic twins)
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN366C001
intergenic_variant
rs1120004
T>G
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
