Gene "MKS1"
Found 5 records
Gene information
Gene symbol:
MKS1
See related:
Ensembl: ENSG00000011143, Gene ID: 54903
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
5
Disorder:
1
Vriant:
5
Reference:
1
Effect type:
Pleiotropy(5)
Modifier effect:
Novel seizure phenotype(5)
Details:
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Variant 1:Gene:Genomic location:Target disease:Bardet-Biedl Syndrome(DOID_1935)Effect type:PleiotropyModifier effect:Novel seizure phenotypeEvidence:Pedigree analysisEffect:Novel seizure phenotypeReference:Title:Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.Species studied:HumanAbstract:Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci. Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. Functional studies in zebrafish showed that mks1 is necessary for gastrulation movements and that it interacts genetically with known bbs genes. Similarly, we found two families with missense or splice mutations in MKS3, in one of which the affected individual also bears a homozygous nonsense mutation in CEP290 that is likely to truncate the C terminus of the protein. These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum.
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Variant 2:Gene:Genomic location:chr17:56293498dbSNP ID:Target disease:Bardet-Biedl Syndrome(DOID_1935)Effect type:PleiotropyModifier effect:Novel seizure phenotypeEvidence:Pedigree analysisEffect:Novel seizure phenotypeReference:Title:Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.Species studied:HumanAbstract:Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci. Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. Functional studies in zebrafish showed that mks1 is necessary for gastrulation movements and that it interacts genetically with known bbs genes. Similarly, we found two families with missense or splice mutations in MKS3, in one of which the affected individual also bears a homozygous nonsense mutation in CEP290 that is likely to truncate the C terminus of the protein. These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum.
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Variant 3:Gene:Genomic location:chr17:56290344dbSNP ID:Target disease:Bardet-Biedl Syndrome(DOID_1935)Effect type:PleiotropyModifier effect:Novel seizure phenotypeEvidence:Pedigree analysisEffect:Novel seizure phenotypeReference:Title:Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.Species studied:HumanAbstract:Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci. Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. Functional studies in zebrafish showed that mks1 is necessary for gastrulation movements and that it interacts genetically with known bbs genes. Similarly, we found two families with missense or splice mutations in MKS3, in one of which the affected individual also bears a homozygous nonsense mutation in CEP290 that is likely to truncate the C terminus of the protein. These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum.
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Variant 4:Gene:Genomic location:chr17:56283840dbSNP ID:Target disease:Bardet-Biedl Syndrome(DOID_1935)Effect type:PleiotropyModifier effect:Novel seizure phenotypeEvidence:Pedigree analysisEffect:Novel seizure phenotypeReference:Title:Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.Species studied:HumanAbstract:Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci. Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. Functional studies in zebrafish showed that mks1 is necessary for gastrulation movements and that it interacts genetically with known bbs genes. Similarly, we found two families with missense or splice mutations in MKS3, in one of which the affected individual also bears a homozygous nonsense mutation in CEP290 that is likely to truncate the C terminus of the protein. These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum.
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Variant 5:Gene:Genomic location:chr17:56285517-56285519dbSNP ID:Target disease:Bardet-Biedl Syndrome(DOID_1935)Effect type:PleiotropyModifier effect:Novel seizure phenotypeEvidence:Pedigree analysisEffect:Novel seizure phenotypeReference:Title:Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.Species studied:HumanAbstract:Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci. Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. Functional studies in zebrafish showed that mks1 is necessary for gastrulation movements and that it interacts genetically with known bbs genes. Similarly, we found two families with missense or splice mutations in MKS3, in one of which the affected individual also bears a homozygous nonsense mutation in CEP290 that is likely to truncate the C terminus of the protein. These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum.