Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

doi:10.1016/j.ajhg.2011.12.023

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Article

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

American journal of human genetics - 10 Feb 2012

Lines Matthew A, Huang Lijia, Schwartzentruber Jeremy, Douglas Stuart L, Lynch Danielle C, Beaulieu Chandree, Guion-Almeida Maria Leine, Zechi-Ceide Roseli Maria, Gener Blanca, Gillessen-Kaesbach Gabriele, Nava Caroline, Baujat Geneviève, Horn Denise, Kini Usha, Caliebe Almuth, Alanay Yasemin, Utine Gulen Eda, Lev Dorit, Kohlhase Jürgen, Grix Arthur W, Lohmann Dietmar R, Hehr Ute, Böhm Detlef, Majewski Jacek, Bulman Dennis E, Wieczorek Dagmar, Boycott Kym M

Abstract excerpt

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals...

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Identifiers

PMID: 22305528
DOI: 10.1016/j.ajhg.2011.12.023
PMCID: PMC3276671

Genes

EFTUD2

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Related research

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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.PMID 22305528Read ↗

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Semantic proximity Read ↗

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.Semantic proximity Read ↗

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.Semantic proximity Read ↗

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in KoreaSemantic proximity Read ↗

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.Semantic proximity Read ↗

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.Semantic proximity Read ↗

Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.Semantic proximity Read ↗

Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.Semantic proximity Read ↗

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.Semantic proximity Read ↗

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.Semantic proximity Read ↗

A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.Semantic proximity Read ↗

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.Semantic proximity Read ↗

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