LNPKlunapark, ER junction formation factor
Autism Reports / Total Reports
1 / 4Rare Variants / Common Variants
14 / 0Aliases
LNPK, KIAA1715, LNP, LNP1, Ul, ulnalessAssociated Syndromes
-Chromosome Band
2q31.1Associated Disorders
ASDRelevance 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
SFARI Genomic Platforms
Reports related to LNPK (4 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome | Breuss MW , et al. (2018) | No | Autistic features |
| 2 | Support | - | Tuncay IO et al. (2023) | Yes | - |
| 3 | Recent Recommendation | - | et al. () | No | - |
| 4 | Support | - | et al. () | No | ASD |
Rare Variants (14)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.-62-1G>T | - | splice_site_variant | Familial | Maternal | Simplex | 37794925 | et al. () | |
| c.19C>T | p.Arg7Ter | stop_gained | Familial | Both parents | Simplex | 37794925 | et al. () | |
| C>T | - | intergenic_variant | Familial | Both parents | - | 37492102 | Tuncay IO et al. (2023) | |
| c.428C>A | p.Ser143Ter | stop_gained | Familial | Both parents | Simplex | 37794925 | et al. () | |
| c.889C>T | p.Arg297Ter | stop_gained | Familial | Both parents | Simplex | 37794925 | et al. () | |
| c.355dup | p.Ile119AsnfsTer3 | frameshift_variant | Unknown | - | Simplex | 37794925 | et al. () | |
| c.757C>T | p.Arg253Ter | stop_gained | Familial | Both parents | Multiplex | 37794925 | et al. () | |
| c.1252+1G>C | - | splice_site_variant | Familial | Both parents | Multiplex | 37794925 | et al. () | |
| c.431dup | p.Lys145GlufsTer6 | frameshift_variant | Familial | Both parents | Simplex | 37794925 | et al. () | |
| c.726del | p.Pro243LeufsTer2 | frameshift_variant | Familial | Both parents | Simplex | 37794925 | et al. () | |
| c.751C>T | p.Gln251Ter | stop_gained | Familial | Both parents | Simplex | 30032983 | Breuss MW , et al. (2018) | |
| c.359_362del | p.Leu120GlnfsTer14 | frameshift_variant | Familial | Both parents | Multiplex | 37794925 | et al. () | |
| c.402_405del | p.Leu134PhefsTer24 | frameshift_variant | Familial | Both parents | Multiplex | 37794925 | et al. () | |
| c.727del | p.Ser243LeufsTer68 | frameshift_variant | Familial | Both parents | Multiplex | 30032983 | Breuss MW , et al. (2018) |
Common Variants
No common variants reported.
SFARI Gene score
Syndromic
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).
Score Delta: Score remained at S
criteria met
See SFARI Gene'scoring criteriaThe syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."
10/1/2019
Score remained at S
New Scoring Scheme
Description
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).