RCPS EIF4A3

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 recessive¹.

Prevalence

49 cases as of Nov 2023². Found in Brazilian families and one unrelated French patient¹.

Age of Onset Details

0 (birth)

Locus

hg19

chr17:78120808-78120938

hg38

chr17:80147009-80147139

t2t

chr17:81047404-81047534

Details

Complex repeat of 18-20 nucleotides expands to cause disease: disease is found in individuals with 14-16 repeats³, while controls have typically 3-12 repeats with as low as 1 repeat^4,5. Significance of intermediate alleles is unknown⁶.

Mechanism

LoF

LoF from a hypomorphic allele³.

Year

2014³; syndrome described in 1992⁷

Location in Gene

5' UTR

Gene Strand

Alleles

Ref. Motif

CCTCGCTGTGCCGCTGCCGA

Pathogenic (ref.)

CCTCGCTGTGCCGCTGCCGA

Pathogenic (gene)

ACAGCGAGGTCGGCAGCGGC

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0009998

Treatment of the median mandibular cleft in Richieri-Costa-Pereira syndrome with a customized total mandibular prosthesis: A case report

Ryuichi,Hoshi, Paula,Marcella Silva Drago, Henrique,Mascarenhas Villela, Gabriela,Gayer Sheibler, Daniel,Serra Cassano, Fernanda,Barros Silva de Pedreira Barbosa, Lissa,Hoshi, Isadora,dos Santos Lima

Oral and Maxillofacial Surgery Cases · 2024-03-01

doi:10.1016/j.omsc.2023.100340

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

Francine P,Favaro, Lucas,Alvizi, Roseli M,Zechi-Ceide, Debora,Bertola, Temis M,Felix, Josiane,de Souza, Salmo,Raskin, Stephen R F,Twigg, Andrea M J,Weiner, Pablo,Armas, Ezequiel,Margarit, Nora B,Calcaterra, Gregers R,Andersen, Simon J,McGowan, Andrew O M,Wilkie, Antonio,Richieri-Costa, Maria L G,de Almeida, Maria Rita,Passos-Bueno

American journal of human genetics · 2013-12-19

pmid:24360810

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

GeneReviews® [Internet] · 2022-10-20

genereviews:NBK535148

gnomAD

gnomad:EIF4A3

Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

D R,Bertola, G,Hsia, L,Alvizi, A,Gardham, E L,Wakeling, G L,Yamamoto, R S,Honjo, L A N,Oliveira, R C,Di Francesco, B A,Perez, C A,Kim, M R,Passos-Bueno

Clinical genetics · 2018-02-20

pmid:29112243

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.

A,Richieri-Costa, S C,Pereira

American journal of medical genetics · 1992-03-01

pmid:1632438

Additional Literature

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)