Robin Sequence with Cleft Mandible and Limb Anomalies (EIF4A3)
| Dred_ID | RD00042 |
| OMIM ID | 268305 |
| Disease name | Robin Sequence with Cleft Mandible and Limb Anomalies |
| Alternative names | Rcps Richieri-Costa-Pereira Syndrome |
| Category | Genetic diseases, Rare diseases, Fetal diseases |
| Phenotype | NIH Rare Diseases: Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.
OMIM: Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011). |
| Miscellaneouse | Age of onset: Infancy,Neonatal; |
| Prevalence | Prevalence: <1/1000000 (Worldwide); [source: MalaCards] |
| Inheritance | Autosomal recessive |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | EIF4A3 |
| Alias symbols | RCPS; DDX48; MUK34; NUK34; NMP265; eIF4AIII |
| Gene name | eukaryotic translation initiation factor 4A3 |
| Gene map locus | 17q25.3; chr17:80,134,369-80,147,151(-) |
| Ensembl Gene ID | ENSG00000141543 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008] |
| Repeat unit | TCGGCAGCGG(CA/G)CAGCGAGG |
| Normal repeat copies | 3-12 |
| Pathogenic repeat copies | ≥14 |
| Gene | EIF4A3 |
| Repeat location | 5' UTR |
| Chromosome locus | chr17:80147001-80147119 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | Richieri-Costa-Pereira syndrome (RCPS [MIM 268305]) is an autosomal-recessive syndrome characterized by a midline cleft mandible in addition to Robin sequence, laryngeal abnormalities, and radial and tibial de?ciencies associated with clubfeet.Learning and language disabilities have been reported in more than 50% of the affected individuals.1 All but one of the RCPS-affected families described to date are from Brazil, suggesting a founder effect . |
| Pathway annotation | Reactome, KEGG |
| PMID | 24360810 |
| Authors | Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM3, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR |
| Title | A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects |
| Journal | Am J Hum Genet. 94(1):120-8 |
| Year | 2014 |