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Relevance to Autism

Two de novo missense variants in the FBN1 gene were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2012 and Iossifov et al., 2014. Krumm et al., 2015 reported that no de novo SNVs in this gene were observed in SSC unaffected siblings (de novo SNV P-value <0.05), and no rare effect types were reported in the Exome Variant Server. A third de novo missense variant in this gene was identified in De Rubeis et al., 2014

Molecular Function

This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Psychomotor retardation
Heart malformation
Support
Excess of rare, inherited truncating mutations in autism.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Congenital heart disease (CHD)
DD, learning disabilities

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN754R001 
 missense_variant 
 c.4057G>A 
 p.Gly1353Arg 
 De novo 
 NA 
 Simplex 
 GEN754R002 
 missense_variant 
 c.3971A>G 
 p.Asn1324Ser 
 De novo 
 NA 
 Simplex 
 GEN754R003 
 missense_variant 
 c.6917G>A 
 p.Arg2306His 
 De novo 
 NA 
 Simplex 
 GEN754R004 
 missense_variant 
 c.3508C>T 
 p.Arg1170Cys 
 De novo 
 NA 
  
 GEN754R005 
 missense_variant 
 c.284C>T 
 p.Ser95Leu 
 Familial 
 Maternal 
  
 GEN754R006 
 synonymous_variant 
 c.3216C>T 
 p.Asp1072= 
 De novo 
 NA 
 Simplex 
 GEN754R007 
 synonymous_variant 
 c.5274C>T 
 p.Asp1758= 
 De novo 
 NA 
 Simplex 
 GEN754R008 
 synonymous_variant 
 c.7338C>T 
 p.Asn2446= 
 De novo 
 NA 
 Simplex 
 GEN754R009 
 missense_variant 
 c.2323C>T 
 p.Leu775Phe 
 Unknown 
  
 Simplex 
 GEN754R010 
 missense_variant 
 c.5772C>A 
 p.His1924Gln 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion-Duplication
 8
 
15
Deletion
 2
 

No Animal Model Data Available

 

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