DMPK
Homo sapiens
Gene Name: dystrophia myotonica-protein kinase
Aliases: DM; DM1; DMK; MDPK; DM1PK; MT-PK
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Myotonic dystrophy type 1
Aliases: DM; DM1; DMK; MDPK; DM1PK; MT-PK
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Myotonic dystrophy type 1
Summary Statistics:
ASD Reports: 12
Recent Reports: 2
Annotated variants: 16
Associated CNVs: 1
Evidence score: 3
ASD Reports: 12
Recent Reports: 2
Annotated variants: 16
Associated CNVs: 1
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. For example, positive genetic association has been found between a triplet repeat in the DMPK gene and autism with increasing repeat expansions in a Swedish population (Ekstrom et al., 2008).
Molecular Function
The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.
Myotonic dystrophy type 1
ASD
Support
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Highly Cited
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.
Highly Cited
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy.
Highly Cited
RNA leaching of transcription factors disrupts transcription in myotonic dystrophy.
Recent Recommendation
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
DD, myotonic dystrophy-1
Recent Recommendation
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN071R004
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
Familial
Maternal
Simplex
GEN071R005
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
Unknown
Not maternal
Multiplex
GEN071R006
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
Unknown
Simplex
GEN071R007
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
Unknown
Simplex
GEN071R008
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
Unknown
Simplex
GEN071R009
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
Unknown
Simplex
GEN071R010
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
Unknown
Simplex
GEN071R011
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
Familial
Paternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN071C001
trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant
c.*224_*226CTG(51_?);c.*217_*219CTG(51_?)
Swedish
Discovery
