Richieri‐costa and Pereira syndrome: Severe phenotype

Abstract

Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported.

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).…”

“…(2013). Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders.…”

“…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.…”

Investigação de loco gênico em famílias com síndrome Richieri-Costa-Pereira

“…Atualmente, 30 indivíduos (pertencentes a 26 famílias) com SRCP estão cadastrados na Seção de Genética Clínica do HRAC-USP-Bauru e, 28 desses foram publicados (Favaro et al 2011), o que representa cerca de 82% do total de casos descritos na literatura (Raskin et al 2013 2.1 ASPECTOS CLÍNICOS DA SÍNDROME RICHIERI-COSTA-PEREIRA* A síndrome Richieri-Costa-Pereira (SRCP) tem como critérios mínimos para o diagnóstico, fissura ou fusão anormal de mandíbula e anomalias pré e pós-axiais de membros.…”