HCFC1
Homo sapiens
Gene Name: host cell factor C1
Aliases: CFF, HCF, HCF-1, HCF1, HFC1, MRX3, PPP1R89, VCAF
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Syndromic-Rare Single Gene variant
Aliases: CFF, HCF, HCF-1, HCF1, HFC1, MRX3, PPP1R89, VCAF
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Syndromic-Rare Single Gene variant
Summary Statistics:
ASD Reports: 12
Recent Reports: 1
Annotated variants: 23
Associated CNVs: 11
Evidence score: 2
ASD Reports: 12
Recent Reports: 1
Annotated variants: 23
Associated CNVs: 11
Evidence score: 2
Gene Score: S
Associated Disorders: |
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Relevance to Autism
A variant in the 5'UTR of the HCFC1 gene was found to completely segregate with intellectual disability in the MRX3 pedigree. This variant, which resided in the binding site of the transcription factor YY1, abolished YY1 binding and led to increased HCFC1 expression. Two additional unique HCFC1 variants were identified in follow-up exome sequencing of probands from unresolved families affected by intellectual disability, one of which was shown to segregate with ID (Huang et al., 2012).
Molecular Function
Involved in control of the cell cycle.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
ID
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
ASD, SCZ
Support
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
ASD, epilepsy/seizures
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
ID
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID, epilepsy/seizures
Autistic features
Support
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
ID
Microcephaly
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ID
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Recent Recommendation
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
cblX
DD, epilepsy
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN430R002
missense_variant
c.674G>A
p.Ser225Asn
Familial
Maternal
Multi-generational
GEN430R013
missense_variant
c.2285C>T
p.Thr762Ile
Familial
Maternal
Multi-generational
GEN430R015
missense_variant
c.2690C>T
p.Ala897Val
Familial
Maternal
Multiplex
Common
No Common Variants Available