NM_006708.2(GLO1):c.332A>C (p.Glu111Ala) AND Autism 1

Clinical significance:Uncertain significance (Last evaluated: Dec 30, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000017412.1

Allele description [Variation Report for NM_006708.2(GLO1):c.332A>C (p.Glu111Ala)]

NM_006708.2(GLO1):c.332A>C (p.Glu111Ala)

Gene:
GLO1:glyoxalase I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.2
Genomic location:
Preferred name:
NM_006708.2(GLO1):c.332A>C (p.Glu111Ala)
Other names:
GLO1, ALA111GLU (rs4746)
HGVS:
  • NC_000006.12:g.38682852T>G
  • NG_012074.1:g.25325A>C
  • NM_006708.2:c.332A>C
  • NP_006699.2:p.Glu111Ala
  • NC_000006.11:g.38650628T>G
  • Q04760:p.Glu111Ala
Protein change:
A111E; ALA111GLU
Links:
UniProtKB: Q04760#VAR_013481; OMIM: 138750.0001; dbSNP: rs4746
NCBI 1000 Genomes Browser:
rs4746
Molecular consequence:
  • NM_006708.2:c.332A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autism 1 (AUTS1)
Synonyms:
AUTISM, SUSCEPTIBILITY TO, 1
Identifiers:
MedGen: C1968924

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037684OMIMno assertion criteria providedUncertain significance
(Dec 30, 2010)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor.

Junaid MA, Kowal D, Barua M, Pullarkat PS, Sklower Brooks S, Pullarkat RK.

Am J Med Genet A. 2004 Nov 15;131(1):11-7.

PubMed [citation]
PMID:
15386471
PMCID:
PMC1360505

No association between common variants in glyoxalase 1 and autism spectrum disorders.

Rehnström K, Ylisaukko-Oja T, Vanhala R, von Wendt L, Peltonen L, Hovatta I.

Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):124-7.

PubMed [citation]
PMID:
17722011
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000037684.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

This variant, formerly titled AUTISM, SUSCEPTIBILITY TO, has been reclassified based on the findings of Rehnstrom et al. (2008) and Wu et al. (2008).

Using a proteomics method to identify abnormal proteins in autopsied brains of patients with autism (209850), Junaid et al. (2004) found an increase in polarity of glyoxalase I by 2-dimensional gel electrophoresis; direct sequencing of the GLO1 gene identified a 419C-A transversion in the gene, resulting in an ala111-to-glu (A111E) substitution. The glu111 enzyme is more acidic than the ala111 enzyme and has reduced functional activity. Four brains were homozygous for A/A (glu111), 3 were heterozygous for A/C (ala111/glu111), and 1 was homozygous for C/C (ala111). Of 9 controls, which included 1 patient with Down syndrome and 3 patients with mental retardation, 2 were A/A, 3 were A/C, and 4 were C/C. In a larger sample of autism patients and controls, the frequency of the 419A allele was 0.6 in autism and 0.4 in controls. Junaid et al. (2004) suggested that a reduction in GLO1 enzyme activity could result in the accumulation of methylglyoxal, which may be toxic to the developing brain. The data suggested that homozygosity for the glu111 allele is a predisposing factor in the development of autism.

Rehnstrom et al. (2008) genotyped 6 polymorphisms in the GLO1 gene, including A111E, in Finnish families with more than 230 individuals with autism spectrum disorders and carried out both linkage and association analyses. They observed no significant linkage or association between any SNP and ASD.

Wu et al. (2008) performed mutation screening of all exons of the GLO1 gene in 272 Han Chinese patients with autism and 310 healthy controls. They found no significant differences in the frequency distributions of A111E between the autism and control groups. Moreover, they did not identify any other mutations associated with autism in the exon regions.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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