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Relevance to Autism

Rare mutations in the FRMPD4 gene have been identified with autism and schizophrenia (Piton et al., 2011). X-exome sequencing of 405 unresolved families with X-linked intellectual disability (XLID) in Hu et al., 2016 identified a maternally-transmitted frameshift variant in the FRMPD4 gene that segregated with XLID in a family in which affected males presented with variable seizures, poor or absent speech, and behavioral problems; a de novo missense variant in FRMPD4 was also identified in an unrelated male proband presenting with ASD, developmental delay, and absent speech in this study. Piard et al., 2017 presented two novel families with four affected males carrying FRMPD4 mutations; three of these affected males presented with ASD in addition to intellectual disability, gross motor delay, and speech delay. Frmpd4-knockout mice were also shown to display hippocampal-dependent spatial learning and memory deficits in Piard et al., 2017.

Molecular Function

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
ID
Support
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
ID
ASD
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Epilepsy, ASD
Recent Recommendation
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
ID
ASD, epilepsy/seizures
Recent Recommendation
Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN098R001 
 missense_variant 
 c.3440G>A 
 p.Gly1147Glu 
 Familial 
 Maternal 
  
 GEN098R002 
 missense_variant 
 c.2854G>A 
 p.Glu952Lys 
 Familial 
 Maternal 
 Simplex 
 GEN098R003 
 frameshift_variant 
 c.1851del 
 p.Cys618ValfsTer8 
 Familial 
 Maternal 
 Extended multiplex 
 GEN098R004 
 missense_variant 
 c.1657T>C 
 p.Cys553Arg 
 De novo 
 NA 
  
 GEN098R005 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN098R006 
 stop_gained 
 c.856C>T 
 p.Leu286= 
 Familial 
 Maternal 
 Multiplex 
 GEN098R007 
 missense_variant 
 c.3271C>G 
 p.Gln1091Glu 
 Familial 
 Maternal 
  

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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