PRR12
Homo sapiens
Gene Name: proline rich 12
Aliases: KIAA1205
Chromosome No: 19
Chromosome Band: 19q13.33
Genetic Category: Syndromic-Rare single gene variant
Aliases: KIAA1205
Chromosome No: 19
Chromosome Band: 19q13.33
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 35
Associated CNVs: 3
Evidence score: 4
ASD Reports: 7
Recent Reports: 0
Annotated variants: 35
Associated CNVs: 3
Evidence score: 4
| Associated Disorders: |
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Relevance to Autism
A de novo translocation disrupting the PRR12 gene was identified in a female patient presenting with intellectual disability, seizures, and behavioral problems in Crdova-Fletes et al., 2015. Three de novo potentially loss-of-function (LoF) variants in the PRR12 gene were identified in patients presenting with intellectual disability, iris abnormalities, and dysmorphic features in Leduc et al., 2018; two of these patients were also diagnosed with ASD by formal testing.
Molecular Function
This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
ID
ASD, ADHD
Support
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
Neuroocular syndrome
DD, ID, learning difficulties
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alt...
ID, epilepsy/seizures
Behavioral abnormalities
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Neuroocular syndrome, DD
ASD or autistic features, ID, epilepsy/seizures
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1008R006
frameshift_variant
c.3273del
p.Lys1092ArgfsTer131
De novo
Simplex
GEN1008R014
stop_gained
c.1232C>A
p.Ser411Ter
Unknown
Not maternal
Multiplex
GEN1008R015
stop_gained
c.1521T>G
p.Tyr507Ter
De novo
Multiplex (monozygotic twins)
GEN1008R016
frameshift_variant
c.2236_2237del
p.Val746CysfsTer43
De novo
Simplex
GEN1008R018
frameshift_variant
c.2732_2744del
p.Gly911AlafsTer115
De novo
Simplex
GEN1008R021
frameshift_variant
c.3009_3028dup
p.Leu1010ProfsTer27
De novo
Simplex
GEN1008R022
frameshift_variant
c.3224del
p.Thr1075AsnfsTer148
Unknown
Multiplex
GEN1008R023
frameshift_variant
c.3273delC
p.Lys1092ArgfsTer131
De novo
Simplex
GEN1008R027
frameshift_variant
c.4674_4676delinsGC
p.Cys1558TrpfsTer90
De novo
Simplex
Common
No Common Variants Available