Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

H Vega; A H Trainer; M Gordillo; M Crosier; H Kayserili; F Skovby; M L Giovannucci Uzielli; R E Schnur; S Manouvrier; E Blair; J A Hurst; F Forzano; M Meins; Mari Kristina Simola; A Raas-Rothschild; R C M Hennekam; E Wang Jabs

doi:10.1136/jmg.2009.068395

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

H Vega, A H Trainer, M Gordillo, M Crosier, H Kayserili, F Skovby, M L Giovannucci Uzielli, R E Schnur, S Manouvrier, E Blair, J A Hurst, F Forzano, M Meins, Mari Kristina Simola, A Raas-Rothschild, R C M Hennekam, E Wang Jabs

Afdeling for Genetik

57 Citationer (Scopus)

Abstract

Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be truncating mutations. Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available.

Originalsprog	Engelsk
Tidsskrift	Journal of Medical Genetics
Vol/bind	47
Udgave nummer	1
Sider (fra-til)	30-7
Antal sider	8
ISSN	0022-2593
DOI	https://doi.org/10.1136/jmg.2009.068395
Status	Udgivet - 1 jan. 2010

Adgang til dokumentet

10.1136/jmg.2009.068395

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Citationsformater

Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, M. K., Raas-Rothschild, A., Hennekam, R. C. M., & Jabs, E. W. (2010). Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. Journal of Medical Genetics, 47(1), 30-7. https://doi.org/10.1136/jmg.2009.068395

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. / Vega, H; Trainer, A H; Gordillo, M et al.
I: Journal of Medical Genetics, Bind 47, Nr. 1, 01.01.2010, s. 30-7.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Vega, H, Trainer, AH, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, MLG, Schnur, RE, Manouvrier, S, Blair, E, Hurst, JA, Forzano, F, Meins, M, Simola, MK, Raas-Rothschild, A, Hennekam, RCM & Jabs, EW 2010, 'Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome', Journal of Medical Genetics, bind 47, nr. 1, s. 30-7. https://doi.org/10.1136/jmg.2009.068395

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F et al. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. Journal of Medical Genetics. 2010 jan. 1;47(1):30-7. doi: 10.1136/jmg.2009.068395

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abstract = "Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be truncating mutations. Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available.",

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AU - Vega, H

AU - Trainer, A H

AU - Gordillo, M

AU - Crosier, M

AU - Kayserili, H

AU - Skovby, F

AU - Uzielli, M L Giovannucci

AU - Schnur, R E

AU - Manouvrier, S

AU - Blair, E

AU - Hurst, J A

AU - Forzano, F

AU - Meins, M

AU - Simola, Mari Kristina

AU - Raas-Rothschild, A

AU - Hennekam, R C M

AU - Jabs, E Wang

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AB - Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be truncating mutations. Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available.

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