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Relevance to Autism

Brunet et al., 2020 delineated the genotypic and phenotypic spectrum of 25 individuals (15 males, 10 females) with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome) and found that 10/20 (50%) individuals had a diagnosis of autism spectrum disorder. De novo likely gene-disruptive (dnLGD) variants in the MSL3 gene were identified in an ASD proband from the SPARK cohort (Wang et al., 2020) and in four probands from the Deciphering Developmental Disorders study in 2017, while a de novo missense variant in MSL3 was identified in a female ASD proband from the Autism Sequencing Consortium in Satterstrom et al., 2020. Single-molecule molecular inversion probe (smMIP) sequencing of 125 genes in over 16,000 cases with neurodevelopmental disorders in Wang et al., 2020 identified an additional likely gene-disruptive variant in an ASD proband from the AGRE cohort.

Molecular Function

This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. Hemizygous or heterozygous mutations in the MSL3 gene are responsible for Basilicata-Akhtar syndrome (MRXSBA; OMIM 301032), a disorder characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech (Basilicata et al., 2018).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
Basilicata-Akhtar syndrome
ASD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD
ID
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
Basilicata-Akhtar syndrome
Support
Prevalence and architecture of de novo mutations in developmental disorders
Developmental disorders

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1225R001 
 splice_site_variant 
 c.1430+1G>A 
  
 De novo 
 NA 
 Simplex 
 GEN1225R002 
 frameshift_variant 
 c.1146del 
 p.Lys383SerfsTer22 
 De novo 
 NA 
 Simplex 
 GEN1225R003 
 missense_variant 
 c.1310A>C 
 p.Asn437Thr 
 De novo 
 NA 
 Simplex 
 GEN1225R004 
 splice_site_variant 
 c.589-4_591del 
  
 De novo 
 NA 
 Simplex 
 GEN1225R005 
 frameshift_variant 
 c.1319dup 
 p.Gly441ArgfsTer2 
 De novo 
 NA 
 Simplex 
 GEN1225R006 
 frameshift_variant 
 c.808_809del 
 p.Pro270ValfsTer8 
 Unknown 
  
 Multiplex 
 GEN1225R007 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN1225R008 
 frameshift_variant 
 c.1168_1169del 
 p.Lys390GlufsTer6 
 Unknown 
 Not maternal 
 Multiplex 
 GEN1225R009 
 stop_gained 
 c.913C>T 
 p.Gln305Ter 
 De novo 
 NA 
 Simplex 
 GEN1225R010 
 stop_gained 
 c.1105C>T 
 p.Gln369Ter 
 De novo 
 NA 
 Simplex 
 GEN1225R011 
 splice_site_variant 
 c.1382-1G>A 
  
 Familial 
 Maternal 
 Simplex 
 GEN1225R012 
 frameshift_variant 
 c.1089_1105dup 
 p.Met369ArgfsTer30 
 De novo 
 NA 
 Simplex 
 GEN1225R013 
 missense_variant 
 c.1370T>C 
 p.Leu457Pro 
 De novo 
 NA 
 Simplex 
 GEN1225R014 
 frameshift_variant 
 c.590_593del 
 p.Leu197Ter 
 De novo 
 NA 
 Simplex 
 GEN1225R015 
 inframe_deletion 
 c.1362_1364del 
 p.Gln454del 
 De novo 
 NA 
 Simplex 
 GEN1225R016 
 splice_site_variant 
 c.1135+2_1135+4del 
  
 De novo 
 NA 
 Simplex 
 GEN1225R017 
 stop_gained 
 c.961C>T 
 p.Gln321Ter 
 De novo 
 NA 
 Simplex 
 GEN1225R018 
 missense_variant 
 c.1373G>T 
 p.Arg458Leu 
 De novo 
 NA 
 Multiplex 
 GEN1225R019 
 stop_gained 
 c.1314C>A 
 p.Tyr438Ter 
 De novo 
 NA 
 Simplex 
 GEN1225R020 
 frameshift_variant 
 c.590_593del 
 p.Leu197Ter 
 Unknown 
  
 Multiplex 
 GEN1225R021 
 stop_gained 
 c.865A>T 
 p.Lys289Ter 
 De novo 
 NA 
 Multiplex 
 GEN1225R022 
 stop_gained 
 c.1347C>A 
 p.Tyr449Ter 
 De novo 
 NA 
 Multiplex 
 GEN1225R023 
 frameshift_variant 
 c.566dup 
 p.Tyr189Ter 
 De novo 
 NA 
 Simplex 
 GEN1225R024 
 frameshift_variant 
 c.973_974del 
 p.Gln326AlafsTer5 
 De novo 
 NA 
 Multiplex 
 GEN1225R025 
 stop_gained 
 c.1372C>T 
 p.Arg458Ter 
 De novo 
 NA 
 Simplex 
 GEN1225R026 
 missense_variant 
 c.766G>A 
 p.Glu256Lys 
 De novo 
 NA 
 Simplex 
 GEN1225R027 
 stop_gained 
 c.1193C>A 
 p.Ser398Ter 
 De novo 
 NA 
  
 GEN1225R028 
 frameshift_variant 
 c.982del 
 p.Ala328LeufsTer9 
 De novo 
 NA 
  
 GEN1225R029 
 frameshift_variant 
 c.902dup 
 p.Leu302PhefsTer18 
 De novo 
 NA 
  
 GEN1225R030 
 frameshift_variant 
 c.530_531del 
 p.Tyr177LeufsTer3 
 De novo 
 NA 
  
 GEN1225R031 
 frameshift_variant 
 c.1342_1345del 
 p.Phe448Ter 
 De novo 
 NA 
  
 GEN1225R032 
 splice_site_variant 
 c.589-1G>A 
  
 Unknown 
  
  
 GEN1225R033 
 stop_gained 
 c.1237C>T 
 p.Gln413Ter 
 Unknown 
  
  
 GEN1225R034 
 missense_variant 
 c.1453G>T 
 p.Asp485Tyr 
 Unknown 
  
  
 GEN1225R035 
 splice_site_variant 
 c.1430+1G>A 
  
 De novo 
 NA 
 Simplex 
 GEN1225R036 
 stop_gained 
 c.1314C>A 
 p.Tyr438Ter 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 17
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Duplication
 4
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available

No PIN Data Available
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