LNPK
Homo sapiens
Gene Name: lunapark, ER junction formation factor
Aliases: KIAA1715, LNP, LNP1, Ul, ulnaless
Chromosome No: 2
Chromosome Band: 2q31.1
Genetic Category: Syndromic-Rare single gene variant-Functional
Aliases: KIAA1715, LNP, LNP1, Ul, ulnaless
Chromosome No: 2
Chromosome Band: 2q31.1
Genetic Category: Syndromic-Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 6
Evidence score: null
ASD Reports: 4
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 6
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Three affected children from two consanguineous families carrying homozygous loss-of-function mutations in the LNPK gene presented with a neurodevelopmental syndrome characterized by developmental delay (including delayed social development), intellectual disability, hypotonia, epilepsy and corpus callosum hypoplasia; in addition, two of the three cases also presented with autistic features (Breuss et al., 2018).
Molecular Function
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
DD, ID, epilepsy/seizures
Autistic features
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1026R001a
frameshift_variant
c.727del
p.Ser243LeufsTer68
Familial
Both parents
Multiplex
GEN1026R008a
frameshift_variant
c.359_362del
p.Leu120GlnfsTer14
Familial
Both parents
Multiplex
GEN1026R009a
frameshift_variant
c.402_405del
p.Leu134PhefsTer24
Familial
Both parents
Multiplex
Common
No Common Variants Available