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Relevance to Autism

A rare mutation in the FGD1 gene has been identified with ADHD (Orrico et al., 2005). In addition, this gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations in the FGD1 gene have been identified with Aarskog-Scott syndrome (AAS) (Kaname et al., 2006).

Molecular Function

This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the MAP kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of faciogenital dysplasia and X-linked mental retardation, syndromatic 16.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
ADHD
AAS
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ASD, DD
Support
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
AarskogScott syndrome
ADHD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN287R001 
 missense_variant 
 c.1223G>A 
 p.Arg408Gln 
 Familial 
  
  
 GEN287R002 
 missense_variant 
 c.1327C>A 
 p.Arg443Ser 
  
  
  
 GEN287R003 
 stop_gained 
 c.2221G>T 
 p.Glu741Ter 
  
  
  
 GEN287R004 
 missense_variant 
 c.2037C>A 
 p.Asp679Glu 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 24
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available

 

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