PhenoModifier-Variant Detail

Variant "MKS1:c.1112_1114del(p.Phe371del)"

Search result: 1 record

Variant information

Gene:

MKS1

Variant:

MKS1:c.1112_1114del(p.Phe371del)

Genomic location:

chr17:56285517-56285519(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001321269.1:c.1112_1114del(p.Phe371del)
protein_coding	NM_017777.3:c.1112_1114del(p.Phe371del)
protein_coding	NM_001165927.1:c.1082_1084del(p.Phe361del)
protein_coding	NM_001321268.1:c.503_505del(p.Phe168del)
protein_coding	NM_000502.5:c.3733_3735del

dbSNP ID:

rs587777804

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Pleiotropy(1)

Modifier effect:

Novel seizure phenotype(1)

Detail：

Target disease:

Bardet-Biedl Syndrome (DOID_1935)

Effect type:

Pleiotropy

Modifier effect:

Novel seizure phenotype

Evidence:

Pedigree analysis

Effect:

Novel seizure phenotype

Reference:

PMID18327255

Title:

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Species studied:

Human

Abstract:

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.