Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Voigt, Claudia; Mégarbané, André; Neveling, Kornelia; Czeschik, Johanna Christina; Albrecht, Beate; Callewaert, Bert; Deimling, Florian von; Hehr, Andreas; Smeland, Marie Falkenberg; König, Rainer; Kuechler, Alma; Marcelis, Carlo; Puiu, Maria; Reardon, William; Stensland, Hilde Monica Frostad Riise; Schweiger, Bernd; Steehouwer, Marloes; Teller, Christopher; Martin, Marcel; Rahmann, Sven; Hehr, Ute; Brunner, Han G.; Lüdecke, Hermann‐Josef; Wieczorek, Dagmar

doi:10.1186/1750-1172-8-110

Cited by 47 publications

(57 citation statements)

References 15 publications

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“…In humans, mutations in Eftud2 cause craniofacial conditions including mandibulofacial dysostosis and esophageal atresia (Gordon et al 2012;Lines et al 2012;Luquetti et al 2013;Voigt et al 2013).…”

Section: The Role Of Atp6v1c1 In Innate Immunity Regulationmentioning

confidence: 99%

Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity

et al. 2014

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The extent of the innate immune response is regulated by many positively and negatively acting signaling proteins. This allows for proper activation of innate immunity to fight infection while ensuring that the response is limited to prevent unwanted complications. Thus mutations in innate immune regulators can lead to immune dysfunction or to inflammatory diseases such as arthritis or atherosclerosis. To identify novel innate immune regulators that could affect infectious or inflammatory disease, we have taken a comparative genomics RNAi screening approach in which we inhibit orthologous genes in the nematode Caenorhabditis elegans and murine macrophages, expecting that genes with evolutionarily conserved function also will regulate innate immunity in humans. Here we report the results of an RNAi screen of approximately half of the C. elegans genome, which led to the identification of many candidate genes that regulate innate immunity in C. elegans and mouse macrophages. One of these novel conserved regulators of innate immunity is the mRNA splicing regulator Eftud2, which we show controls the alternate splicing of the MyD88 innate immunity signaling adaptor to modulate the extent of the innate immune response.

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Section: The Role Of Atp6v1c1 In Innate Immunity Regulationmentioning

confidence: 99%

Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity

et al. 2014

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“…Moreover, in one of them, OAVS was also suspected because of asymmetric mandibulofacial dysmorphic features. Moreover, Gordon et al and Voigt et al have expanded the phenotype of MFD with microcephaly and added new patients with syndromic EA (Gordon et al 2012;Voigt et al 2013). (Megarbane et al 2005;Voigt et al 2013).…”

Section: Patientmentioning

confidence: 99%

“…Moreover, Gordon et al and Voigt et al have expanded the phenotype of MFD with microcephaly and added new patients with syndromic EA (Gordon et al 2012;Voigt et al 2013). (Megarbane et al 2005;Voigt et al 2013). Gadomi et al suggested array-CGH as an effective first-tier diagnostic test for patients with mandibulofacial dysostosis and microcephaly, because of associated additional major defects (Gandomi et al 2013).…”

Section: Patientmentioning

confidence: 99%

“…The full clinical spectrum of MFDGA is heterogeneous (Gordon et al 2012;Lines et al 2012;Wieczorek 2013;Voigt et al 2013;Lehalle et al 2014). However, the phenotype of patients with EFTUD2 mutations is highly variable.…”

Section: Patientmentioning

confidence: 99%

“…More reports described MFD associated with a major defect such as choanal atresia and esophageal atresia, kidney and heart defects and thumb hypoplasia (Wieczorek et al 2009;Guion-Almeida et al 2009;Gordon et al 2012;Luquetti et al 2013;Voigt et al 2013). Different names of this new entity were used in literature -mandibulofacial dysostosis type Wieczorek or oto-facial syndrome with midline malformation (Wieczorek 2013).…”

Section: Introductionmentioning

confidence: 99%

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Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Śmigiel

Bezniakow²,

Jakubiak

et al. 2014

J Appl Genetics

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We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of our patients, dysmorphic craniofacial features, microcephaly, thumb abnormalities, psychomotor and speech delay were described. In addition, among other major defects, esophageal atresia (EA) in one patient and choanal atresia in two of them were present. Three different mutations in EFTUD2 gene were found in presented patients. Our observations confirm the clinical heterogeneity of mandibulofacial dysostosis type Guion-Almeida and its connection with major congenital defects such as esophageal atresia and choanal atresia.

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Molecular Genetics of Human Facial Dysostoses

Czeschik

Wieczorek

2014

Encyclopedia of Life Sciences

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Human facial dysostoses comprise mandibulofacial (MFDs) and acrofacial dysostoses (AFDs). Both types are characterised by similar craniofacial dysmorphisms, which are assumed to be caused by an abnormal development of the neural crest cells. Craniofacial anomalies consist of downslanting palpebral fissures, lower eyelid coloboma with or without absence of lower eyelashes medial to the defect, hypoplasia of the zygomatic complex, micrognathia and microtia often associated with hearing loss. The facial anomalies are associated with limb anomalies in the AFDs, which are preaxial, postaxial or cannot be classified into one of these groups. The molecular basis for most of the MFDs and AFDs is unknown. For Treacher Collins syndrome ( TCOF1, POLR1D and POLR1C ) and MFD type Hutterite ( TCOF1 ), the molecular basis is known which is also true for three of the AFDs, Nager syndrome ( SF3B4 ), Miller syndrome ( DHODH ) and AFD type Guion‐Almeida ( EFTUD2 ). Key Concepts: In human facial dysostoses, the development of the structures of the first and second branchial arches is disturbed. Facial dysostoses can be subdivided into those with normal extremities, the mandibulofacial dysostoses (MFDs), and those with anomalies of limbs, the acrofacial dysostoses. TCOF1 mutations are causal for Treacher Collins syndrome and MFD type Hutterite. POLR1D and POLR1C mutations are causal for Treacher Collins syndrome. SF3B4 mutations are causal for Nager syndrome. EFTUD2 mutations are causal for ADGA. DHODH mutations are causal for Miller syndrome. EVC and EVC2 mutations are causal for Weyers syndrome.

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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Cited by 47 publications

References 15 publications

Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity

Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Molecular Genetics of Human Facial Dysostoses

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