EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Gordon, C. T., Petit, F., Oufadem, M., Decaestecker, C., Jourdain, A., Andrieux, J., Malan, V., Alessandri, J., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., Delobel, B., Dieterich, K., Gaillard, D., Gonzales, M., Lacombe, D., Escande, F., Manouvrier-Hanu, S., Marlin, S., Mathieu-Dramard, M., Mehta, S. G., Simonic, I., Munnich, A., Vekemans, M., Porchet, N., de Pontual, L., Sarnacki, S., Attie-Bitach, T., Lyonnet, S., Holder-Espinasse, M., & Amiel, J. Journal of Medical Genetics, 49(12):737–746, December, 2012.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia [link]Paper  doi  abstract   bibtex   
BACKGROUND: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly delineated. RESULTS: We report on 10 cases presenting with MFD, eight of whom had OA, either due to de novo 17q21.31 deletions encompassing EFTUD2 and neighbouring genes or de novo heterozygous EFTUD2 loss-of-function mutations. No EFTUD2 deletions or mutations were found in a series of patients with isolated OA or isolated oculoauriculovertebral spectrum (OAVS). CONCLUSIONS: These data exclude a contiguous gene syndrome for the association of MFD and OA, broaden the spectrum of clinical features ascribed to EFTUD2 haploinsufficiency, define a novel syndromic OA entity, and emphasise the necessity of mRNA maturation through the spliceosome complex for global growth and within specific regions of the embryo during development. Importantly, the majority of patients reported here with EFTUD2 lesions were previously diagnosed with Feingold or CHARGE syndromes or presented with OAVS plus OA, highlighting the variability of expression and the wide range of differential diagnoses.
@article{gordon_eftud2_2012,
	title = {{EFTUD2} haploinsufficiency leads to syndromic oesophageal atresia},
	volume = {49},
	issn = {1468-6244},
	url = {https://pubmed.ncbi.nlm.nih.gov/23188108/},
	doi = {10.1136/jmedgenet-2012-101173},
	abstract = {BACKGROUND: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly delineated.
RESULTS: We report on 10 cases presenting with MFD, eight of whom had OA, either due to de novo 17q21.31 deletions encompassing EFTUD2 and neighbouring genes or de novo heterozygous EFTUD2 loss-of-function mutations. No EFTUD2 deletions or mutations were found in a series of patients with isolated OA or isolated oculoauriculovertebral spectrum (OAVS).
CONCLUSIONS: These data exclude a contiguous gene syndrome for the association of MFD and OA, broaden the spectrum of clinical features ascribed to EFTUD2 haploinsufficiency, define a novel syndromic OA entity, and emphasise the necessity of mRNA maturation through the spliceosome complex for global growth and within specific regions of the embryo during development. Importantly, the majority of patients reported here with EFTUD2 lesions were previously diagnosed with Feingold or CHARGE syndromes or presented with OAVS plus OA, highlighting the variability of expression and the wide range of differential diagnoses.},
	language = {eng},
	number = {12},
	journal = {Journal of Medical Genetics},
	author = {Gordon, Christopher T. and Petit, Florence and Oufadem, Myriam and Decaestecker, Charles and Jourdain, Anne-Sophie and Andrieux, Joris and Malan, Valérie and Alessandri, Jean-Luc and Baujat, Geneviève and Baumann, Clarisse and Boute-Benejean, Odile and Caumes, Roseline and Delobel, Bruno and Dieterich, Klaus and Gaillard, Dominique and Gonzales, Marie and Lacombe, Didier and Escande, Fabienne and Manouvrier-Hanu, Sylvie and Marlin, Sandrine and Mathieu-Dramard, Michèle and Mehta, Sarju G. and Simonic, Ingrid and Munnich, Arnold and Vekemans, Michel and Porchet, Nicole and de Pontual, Loïc and Sarnacki, Sabine and Attie-Bitach, Tania and Lyonnet, Stanislas and Holder-Espinasse, Muriel and Amiel, Jeanne},
	month = dec,
	year = {2012},
	keywords = {Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 17, Comparative Genomic Hybridization, Esophageal Atresia, Facies, Female, Haploinsufficiency, Humans, Infant, Male, Peptide Elongation Factors, Phenotype, Ribonucleoprotein, U5 Small Nuclear, Syndrome},
	pages = {737--746},
}
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