Locus 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

0 (birth)

HPO Terms

–

Association

Mendelian

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.

Detection

Short-read sequencing and exome sequencing do not reliably detect this expansion. Targeted 5′ UTR PCR with Sanger sequencing is the common detection methodology [@pmid:29112243; @pmid:24360810].

Year

2014³; syndrome described in 1992⁷

Location in Gene

5' UTR

Gene Strand

Alleles

Ref. Motif

CCTCGCTGTGCCGCTGCCGA

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

CCTCGCTGTGCCGCTGCCGA

Pathogenic (gene)

ACAGCGAGGTCGGCAGCGGC

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interruption (gene)

–

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

Additional literature related to this locus.

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