Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
Cohen, I; Silberstein, E; Perez, Y; Landau, D; Elbedour, K; Langer, Y; Kadir, R; Volodarsky, M; Sivan, S; Narkis, G; Birk, OS
| HERO ID | 3539481 |
|---|---|
| In Press | No |
| Year | 2014 |
| Title | Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase |
| Authors | Cohen, I; Silberstein, E; Perez, Y; Landau, D; Elbedour, K; Langer, Y; Kadir, R; Volodarsky, M; Sivan, S; Narkis, G; Birk, OS |
| Journal | European Journal of Human Genetics |
| Volume | 22 |
| Issue | 3 |
| Page Numbers | 374-378 |
| Abstract | Autosomal recessive Adams-Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out association with known Adams-Oliver syndrome genes, identifying a single-homozygosity ∼1.8-Mb novel locus common to affected individuals (LOD score 3.37). Whole-exome sequencing followed by Sanger sequencing identified only a single mutation within this locus, shared by all affected individuals and found in patients from five additional apparently unrelated Bedouin families: a 1-bp deletion mutation in a predicted alternative splice variant of EOGT, leading to a putative truncated protein. RT-PCR demonstrated that the EOGT-predicted alternative splice variant is ubiquitously expressed. EOGT encodes EGF-domain-specific O-linked N-acetylglucosamine transferase, responsible for extracellular O-GlcNAcylation of epidermal growth factor-like domain-containing proteins, and is essential for epithelial cell-matrix interactions. F-actin staining in diseased fibroblasts showed apparently intact cell cytoskeleton and morphology, suggesting the EOGT mutation acts not through perturbation of cytoskeleton but through other mechanisms yet to be elucidated. |
| Doi | 10.1038/ejhg.2013.159 |
| Pmid | 23860037 |
| Wosid | WOS:000331393700017 |
| Is Certified Translation | No |
| Dupe Override | No |
| Is Public | Yes |
| Language Text | English |