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Relevance to Autism

Homozygosity for one splice-site and two missense mutations in the ALDH1A3 gene was identified in three consanguineous families segregating with anophthalmia and microphthalmia (A/M); in one of these families, affected individuals with a homozygous missense variant in ALDH1A3 were also diagnosed with autism (Fares-Taie et al., 2013). However, in a report in which additional individuals with anophthalmia and microphthalmia (A/M) also presented with autistic features, the authors suggested that such features may be the result of social deprivation and inadequate parenting during early infancy, rather than ALDH1A3 mutations per se (Nur Semerci et al., 2014).

Molecular Function

This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Isolated microphthalmia-8 (MCOP8)
ASD
Negative Association
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
Isolated microphthalmia-8 (MCOP8)
Autistic features
Support
Mutations in ALDH1A3 cause microphthalmia.
Microphthalmia
ASD, ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Recent Recommendation
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
Microphthalmia/coloboma
ASD, ID

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN510R001a 
 missense_variant 
 c.265C>T 
 p.Arg89Cys 
 Familial 
 Both parents 
 Extended multiplex 
 GEN510R002a 
 missense_variant 
 c.1477G>C 
 p.Ala493Pro 
 Familial 
 Both parents 
 Simplex 
 GEN510R003a 
 splice_site_variant 
 c.475+1G>T 
  
 Familial 
 Both parents 
 Simplex 
 GEN510R004a 
 missense_variant 
 c.521G>A 
 p.Cys174Tyr 
 Familial 
 Both parents 
 Multiplex 
 GEN510R005a 
 missense_variant 
 c.1105A>T 
 p.Ile369Phe 
 Familial 
 Both parents 
 Multiplex 
 GEN510R006a 
 missense_variant 
 c.434C>T 
 p.Ala145Val 
 Unknown 
  
 Multiplex 
 GEN510R007a 
 splice_site_variant 
 c.666G>A 
 p.Glu222= 
 Familial 
 Both parents 
 Extended multiplex 
 GEN510R008a 
 missense_variant 
 c.1398C>A 
 p.Asn466Lys 
 Familial 
 Both parents 
 Multiplex 
 GEN510R009 
 splice_site_variant 
 c.538-3C>T 
  
 De novo 
 NA 
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Duplication
 1
 
15
Duplication
 1
 
15
Duplication
 1
 
15
Duplication
 1
 
15
Deletion-Duplication
 4
 
15
Deletion-Duplication
 33
 

No Animal Model Data Available

No PIN Data Available
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