The Richieri‐Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature

Abstract

Richieri-Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Robin sequence with cleft mandible and limb anomalies. There are a typical laryngeal anomaly which encompass short and round larynx, absent or abnormal epiglottis, and abnormal aryepiglottic folds. Most patients reported were from Brazil. We describe a brother and sister with Richieri-Costa and Pereira syndrome on another Brazilian family documenting their physical findings and laryngeal defects. We also review the literature and discuss the main clinical characteristics and etiology.

Richieri‐costa and Pereira syndrome: Severe phenotype

“…History showed consanguinity and recurrence in sibs and a higher mortality rate in males, suggesting autosomal recessive inheritance of this condition. To the present, 32 Brazilian cases have been described [Richieri‐Costa and Pereira, ; Tabith and Bento‐Goncalves, ; Golbert et al, ; Graziadio et al, ; Favaro et al, ; Ogando et al, ; Souza et al, ; Tabith and Bento‐Goncalves, 1996; Guion‐Almeida and Richieri‐Costa, ], and one non‐Brazilian case [Walter‐Nicolet et al, ]. The possibility of a common ancestry of these patients was raised [Favaro et al, ], and the possibility of allelic heterogeneity [Ferreira de Lima et al, ], Recently, a 16–20 nucleotides repeat at the 5′ UTR of the EIF4AE gene was identified as the mutation leading to RCPS [Favaro et al, ].…”

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum

“…A retrospective review of the clinical characteristics from 35 individuals reported in detail in the literature, previously to the uncovering of the molecular mechanism responsible for RCPS, was performed. [3][4][5][8][9][10][11][12][13][14][15][16][17] The main clinical findings obtained in this review were compared to those found in the cohort of this study. In the comparison between the 2 groups, Fisher's exact test, 2-tailed, was applied along with Bonferroni correction for 26 tests.…”

Genetic and epigenetic mechanisms in the aetiology of orofacial clefts

“…[15,16,17,18]. Accordingly, alterations in genes that are known to play diverse roles during carcinogenesis, such as CDH1, TP63, NBS and AXIN2, have been related to both syndromic and non-syndromic cleft lip/palate [19,20,21,22,23,24]. Moreover, both are common diseases with significant genetic heterogeneity; therefore, an aetiological overlap is more likely to occur when compared to other diseases.…”

“…Sequencing of EIF4A3 in five additional Brazilian affected individuals ascertained elsewhere 23,24 revealed that four of them (individuals 21 to 24, including 2 siblings) were homozygous for the 16-repeat allele. In contrast, the fifth (individual 25) was a compound heterozygote, possessing a 14-repeat allele in trans with a nucleotide change, c.809A>G (EIF4A3 transcript, NM_014740.3), which leads to an amino acid substitution at Asp270 (p.Asp270Gly) (Figure 3).…”

“…One possible explanation is their effect on epigenetic mechanisms, particularly methylation of DNA or histones. The contribution of differential DNA methylation to disease states can be assessed using genome wide analysis of CpG dinucleotides and MethWAS has been successfully applied in disease such as diabetes, rheumatoid arthritis and schizophrenia [20][21][22][23][24] . In this study, we have investigated the epigenetic contribution to NSCL/P by performing a MethWAS, first in a Brazilian cohort and followed by a replication study in an independent cohort from the UK.…”