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Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.
Clin Genet. 2018 04; 93(4):800-811.CG

Abstract

Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16-repeat expansion in EIF4A3, there was an overrepresentation of the 14-repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation.

Authors+Show Affiliations

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da FMUSP, Universidade de São Paulo, São Paulo, Brazil. Instituto Biociências, Universidade de São Paulo, São Paulo, Brazil.Instituto Biociências, Universidade de São Paulo, São Paulo, Brazil.Instituto Biociências, Universidade de São Paulo, São Paulo, Brazil.North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.Clinical Genetics, North West Thames Regional Genetic Service, London, North West London Hospitals NHS Trust, Harrow, UK.Unidade de Genética, Instituto da Criança, Hospital das Clínicas da FMUSP, Universidade de São Paulo, São Paulo, Brazil.Unidade de Genética, Instituto da Criança, Hospital das Clínicas da FMUSP, Universidade de São Paulo, São Paulo, Brazil.Unidade de Genética, Instituto da Criança, Hospital das Clínicas da FMUSP, Universidade de São Paulo, São Paulo, Brazil.Departamento de Otorrinolaringologia, Hospital das Clínicas da FMUSP, Universidade de São Paulo, São Paulo, Brazil.Departamento de Genética, Universidade Federal de São Paulo, São Paulo, Brazil.Unidade de Genética, Instituto da Criança, Hospital das Clínicas da FMUSP, Universidade de São Paulo, São Paulo, Brazil.Instituto Biociências, Universidade de São Paulo, São Paulo, Brazil.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

29112243

Citation

Bertola, D R., et al. "Richieri-Costa-Pereira Syndrome: Expanding Its Phenotypic and Genotypic Spectrum." Clinical Genetics, vol. 93, no. 4, 2018, pp. 800-811.
Bertola DR, Hsia G, Alvizi L, et al. Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. Clin Genet. 2018;93(4):800-811.
Bertola, D. R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E. L., Yamamoto, G. L., Honjo, R. S., Oliveira, L. A. N., Di Francesco, R. C., Perez, B. A., Kim, C. A., & Passos-Bueno, M. R. (2018). Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. Clinical Genetics, 93(4), 800-811. https://doi.org/10.1111/cge.13169
Bertola DR, et al. Richieri-Costa-Pereira Syndrome: Expanding Its Phenotypic and Genotypic Spectrum. Clin Genet. 2018;93(4):800-811. PubMed PMID: 29112243.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. AU - Bertola,D R, AU - Hsia,G, AU - Alvizi,L, AU - Gardham,A, AU - Wakeling,E L, AU - Yamamoto,G L, AU - Honjo,R S, AU - Oliveira,L A N, AU - Di Francesco,R C, AU - Perez,B A, AU - Kim,C A, AU - Passos-Bueno,M R, Y1 - 2018/02/20/ PY - 2017/07/09/received PY - 2017/10/11/revised PY - 2017/11/02/accepted PY - 2017/11/8/pubmed PY - 2019/10/1/medline PY - 2017/11/8/entrez KW - EIF4A3 KW - Richieri-Costa-Pereira syndrome KW - acrofacial dysostosis KW - genotype KW - phenotype SP - 800 EP - 811 JF - Clinical genetics JO - Clin Genet VL - 93 IS - 4 N2 - Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16-repeat expansion in EIF4A3, there was an overrepresentation of the 14-repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/29112243/Richieri_Costa_Pereira_syndrome:_Expanding_its_phenotypic_and_genotypic_spectrum_ L2 - https://doi.org/10.1111/cge.13169 DB - PRIME DP - Unbound Medicine ER -