ArticleHuman mutation2010
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed.
- Loss of U11/U12 spliceosome geneLife science alliance · 2026Article
- Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.Nature communications · 2025Article
- First-trimester diagnosis of Meckel syndrome by ultrasonography with suspected mutation ofQuantitative imaging in medicine and surgery · 2025Article
- Nephronophthisis: a pathological and genetic perspective.Pediatric nephrology (Berlin, Germany) · 2024Review
- Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report.BMC medical genomics · 2024Article
- A case of Joubert syndrome caused by novel compound heterozygous variants in theThe Journal of international medical research · 2023Article
- Identification of novelFrontiers in genetics · 2023Article
- A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.Molecular genetics & genomic medicine · 2022Review
- Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.Kidney international reports · 2022Article
- Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.Human molecular genetics · 2022Article
- Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing.Molecular genetics & genomic medicine · 2022Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome.Frontiers in genetics · 2022Article
- Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.Molecular genetics & genomic medicine · 2021Article
- Structure of the human Meckel-Gruber protein Meckelin.Science advances · 2021Article
- Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.Pediatric nephrology (Berlin, Germany) · 2021Article
- Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients withGenes · 2021Article
- Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.Experimental neurology · 2021Review
- Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.Frontiers in genetics · 2021Article
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32 authors.
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Abstract
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.
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