C12orf57
Homo sapiens
Gene Name: Chromosome 12 open reading frame 57
Aliases: C10, GRCC10, TEMTYS
Chromosome No: 12
Chromosome Band: 12p13.31
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Temtamy syndrome
Aliases: C10, GRCC10, TEMTYS
Chromosome No: 12
Chromosome Band: 12p13.31
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Temtamy syndrome
Summary Statistics:
ASD Reports: 15
Recent Reports: 1
Annotated variants: 45
Associated CNVs: 7
Evidence score: 2
ASD Reports: 15
Recent Reports: 1
Annotated variants: 45
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
The same homozygous variant in the C12orf57 gene (c.1A>G; p.Met1?) was detected in ten affected individuals from four consanguineous families of Arab descent; all affected individuals presented with developmental delay/intellectual disability, autistic features, and hypoplasia or agenesis of the corpus callosum (Akizu et al., 2013).
Molecular Function
Function unknown; ubiquitously expressed in human tissues, with high expression in fetal brain. Temtamy syndrome (OMIM:218340), which is characterized by mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum, can be caused by homozygous or compound heterozygous mutation in the C12ORF57 gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
DD, ID
Epilepsy/seizures
Support
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
DD, ID
Epilepsy/seizures
Support
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Temtamy syndrome
ID, hypotonia
Support
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
DD
Epilepsy/seizures
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Temtamy syndrome
ASD
Support
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
DD, ID
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
DD, epilepsy
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corp...
Temtamy syndrome
DD, ID, epilepsy/seizures, autistic behavior
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Temtamy syndrome
DD, ID, ASD, epilepsy/seizures
Recent Recommendation
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Temtamy syndrome
Autistic behavior
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN544R001a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R002a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R003a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R004a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R005a
missense_variant
c.1A>G
p.Met1Val
Familial
Both parents
Multiplex
GEN544R006a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R008a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R012a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Not simplex (positive family history)
GEN544R013a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R016a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R017a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Paternal
Multiplex
GEN544R020a
5_prime_UTR_variant
c.-3_2delinsG
Familial
Both parents
Multiplex
GEN544R023a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R024a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R025a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R026a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R027a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R028a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R029a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R030a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R031a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R032a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R033a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R034a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
GEN544R035a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Not simplex (positive family history)
GEN544R036a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Simplex
GEN544R037a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Unknown
GEN544R038a
splice_site_variant
NM_001301836.1:c.14-2A>G
Familial
Both parents
Unknown
GEN544R040b
frameshift_variant
c.224_242del
p.Gly75ValfsTer22
Familial
Paternal
Simplex
GEN544R041a
initiator_codon_variant
c.1A>G
p.Met1?
Familial
Both parents
Multiplex
Common
No Common Variants Available
