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Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea [PDF]

Diagnostics, 2020
Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (EFTUD2) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the increasing number of potentially pathogenic variants reported in the literature, most previous studies have ...
So Young Kim, Da－Hye Lee, Jin Hee Han
exaly   +4 more sources

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Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Human Mutation, 2014
Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA ...
Daphné, Lehalle, Christopher T, Gordon, Myriam, Oufadem, Géraldine, Goudefroye, Lucile, Boutaud, Jean-Luc, Alessandri, Neus, Baena, Geneviève, Baujat, Clarisse, Baumann, Odile, Boute-Benejean, Roseline, Caumes, Charles, Decaestecker, Dominique, Gaillard, Alice, Goldenberg, Marie, Gonzales, Muriel, Holder-Espinasse, Marie-Line, Jacquemont, Didier, Lacombe, Sylvie, Manouvrier-Hanu, Sandrine, Marlin, Michèle, Mathieu-Dramard, Gilles, Morin, Laurent, Pasquier, Florence, Petit, Marlène, Rio, Robert, Smigiel, Christel, Thauvin-Robinet, Alexandre, Vasiljevic, Alain, Verloes, Valérie, Malan, Arnold, Munnich, Loïc, de Pontual, Michel, Vekemans, Stanislas, Lyonnet, Tania, Attié-Bitach, Jeanne, Amiel   +35 more
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Craniofacial Defects Persist in Eftud2 mutant mice with P53 Deletion

The FASEB Journal, 2022
EFTUD2 is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We previously showed that homozygous deletion of Eftud2 in neural crest cells causes brain and craniofacial malformations, affecting the same precursors as in MFDM patients.
Marie‐Claude Beauchamp, Alexia Boucher, Yanchen Dong, Loydie J. Majewska   +3 more
openaire   +1 more source

Spliceosome protein Eftud2 promotes colitis-associated tumorigenesis by modulating inflammatory response of macrophage [PDF]

Mucosal Immunology, 2019
Alternative splicing (AS) of mRNA is known to be involved in regulation of immune cell differentiation and activation. Elongation factor Tu GTP binding domain containing 2 (Eftud2) is an AS factor to potentially modulate innate immune response in macrophages. In this study, we investigate its involvement in the pathogenesis of colitis-associated cancer
Gencheng Han, Renxi Wang, Chunmei Hou
exaly   +3 more sources

A protective role for EFTUD2 in the brain

Neuron
In this issue of Neuron, Yang et al.1 report MFDM-like phenotypes in mice with deletion of Eftud2 in their Purkinje cells (PCs), namely cerebellar atrophy alongside motor and social deficits, similar to phenotypes observed in MFDM patients. The absence of Eftud2 caused mis-splicing of Atf4, reduced Scd1 and Gch1, and promoted ferroptosis-regulated PC ...
Marie-Claude Beauchamp, Loydie A. Jerome-Majewska   +1 more
openaire   +2 more sources

Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

The Cleft Palate Craniofacial Journal, 2015
Mandibulofacial dysostosis with microcephaly is a rare syndromic craniofacial condition caused by heterozygous loss-of-function mutations of the EFTUD2 gene on 17q21.31. Thus far, the described musculoskeletal findings in patients with this condition include proximally placed or duplicated thumbs, overlapping toes, and toe syndactyly.
Yuri A, Zarate, Carla, Bell, G Bradley, Schaefer   +2 more
openaire   +2 more sources

Neurodevelopmental trajectories and mis-splicing in Chinese patients caused by novel EFTUD2 mutations

Gene
Hua Xie, Xiaoli Chen
exaly   +3 more sources

[Bioinformatic analysis of Eftud2 enhancing mouse macrophage function].

Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology, 2020
Objective To elucidate the mechanisms by which elongation factor Tu GTP binding domain containing 2 (Eftud2) enhances the immune function of murine macrophages by bioinformatics analysis. Methods The bone marrow-derived macrophages (BMDMs) of Eftud2 myeloid cell-specific knockout (MKO) mice (n=10) and wild-type (WT) littermates (n=10) were collected ...
Ying, Sun, Peng, Yang, Zhonglin, Lyu, Yuanqiang, Zheng, Yanchun, Shi, Guojiang, Chen   +5 more
openaire   +1 more source

Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant

2014
Poster ...
Chung, BHY, Amiel, J, Gordon, CT, Tan, TY, Oufadem, M, Chan, HB, Chu, WY, Fung, GPC   +7 more
openaire   +1 more source

Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

Frontiers of Medicine, 2023
Nuo, Si, Guoqin, Zhan, Xiaolu, Meng, Zeya, Zhang, Xin, Huang, Bo, Pan   +5 more
openaire   +2 more sources