BRWD3
Homo sapiens
Gene Name: bromodomain and WD repeat domain containing 3
Aliases: BRODL, MRX93
Chromosome No: X
Chromosome Band: Xq21.1
Genetic Category: Syndromic-Rare single gene variant
Aliases: BRODL, MRX93
Chromosome No: X
Chromosome Band: Xq21.1
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 26
Associated CNVs: 11
Evidence score: 3
ASD Reports: 9
Recent Reports: 1
Annotated variants: 26
Associated CNVs: 11
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Variants in the BRWD3 gene are responsible for a form of X-linked intellectual disability associated with macrocephaly (Field et al., 2007; Tatton-Brown et al., 2017). A review of 17 males with 12 distinct null variants and 2 partial gene deletions in BRWD3 demonstrated that behavioral issues were present in 75% of patients, with ASD observed in 3 patients and shyness in social situations observed in another 3 patients (Ostrowski et al., 2019).
Molecular Function
The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
ID
Macrocephaly
Support
Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders
DD
Support
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
ID
Support
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Childhood apraxia of speech
ASD, ADD, DD, ID
Support
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
ID
Macrocephaly
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Recent Recommendation
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17...
ID
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1132R001
splice_site_variant
c.3325+1G>T
Familial
Maternal
Multi-generational
GEN1132R002
frameshift_variant
c.682dup
p.Met228AsnfsTer4
Familial
Maternal
Multiplex
GEN1132R003
missense_variant
c.4601A>G
p.His1534Arg
Familial
Maternal
Multi-generational
GEN1132R005
stop_gained
c.696T>A
p.Tyr232Ter
Familial
Maternal
Multiplex
GEN1132R006
frameshift_variant
c.447_451del
p.Arg150IlefsTer5
Familial
Maternal
Simplex
GEN1132R007
frameshift_variant
c.2062_2064delinsCCAT
p.Met688ProfsTer2
Unknown
GEN1132R011
frameshift_variant
c.171del
p.Phe57LeufsTer27
Familial
Maternal
Simplex
GEN1132R016
stop_gained
c.4487C>A
p.Ser1496Ter
Familial
Maternal
Multiplex
GEN1132R017
stop_gained
c.4487C>A
p.Ser1496Ter
Familial
Maternal
Multiplex
GEN1132R023
inframe_deletion
c.3697_3699del
p.Ile1233del
Familial
Maternal
Simplex
Common
No Common Variants Available
