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• W1539776611 abstract "American Journal of Medical Genetics Part AVolume 167, Issue 4 p. 914-918 Research Letter Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome Arindam Sarkar, Arindam Sarkar Department of Medicine, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorLisa T. Emrick, Lisa T. Emrick Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorEboni M. Smith, Eboni M. Smith Department of Developmental and Behavioral Pediatrics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorElise G. Austin, Elise G. Austin Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorYaping Yang, Yaping Yang Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorJill V. Hunter, Jill V. Hunter Department of Pediatric Radiology, Texas Children's Hospital, TexasSearch for more papers by this authorFernando Scaglia, Fernando Scaglia Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorSeema R. Lalani, Corresponding Author Seema R. Lalani Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Correspondence to: Seema R. Lalani, MD, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm R806, Houston, TX 77030. E-mail address: [email protected]Search for more papers by this author Arindam Sarkar, Arindam Sarkar Department of Medicine, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorLisa T. Emrick, Lisa T. Emrick Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorEboni M. Smith, Eboni M. Smith Department of Developmental and Behavioral Pediatrics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorElise G. Austin, Elise G. Austin Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorYaping Yang, Yaping Yang Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorJill V. Hunter, Jill V. Hunter Department of Pediatric Radiology, Texas Children's Hospital, TexasSearch for more papers by this authorFernando Scaglia, Fernando Scaglia Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorSeema R. Lalani, Corresponding Author Seema R. Lalani Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas Correspondence to: Seema R. Lalani, MD, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm R806, Houston, TX 77030. E-mail address: [email protected]Search for more papers by this author First published: 03 March 2015 https://doi.org/10.1002/ajmg.a.36948Citations: 15 Arindam Sarkar and Lisa T. Emrick contributed equally to the study. Conflict of interest: The authors declare no financial or other conflict of interests. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA. 2011. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol 12: R68. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H. 2012. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 5: 925– 933. Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Luhrmann R. 1997. An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. EMBO J 16: 4092– 4106. 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Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attie-Bitach T, Amiel J. 2014. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Hum Mutat 35: 478– 485. Li H, Durbin R. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754– 1760. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Bohm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM. 2012. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 90: 369– 377. Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML. 2013. “Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype. Am J Med Genet Part A 161A: 108– 113. Morimotoa AK, Wiggins IIIa RH, Hudginsb PA, Hedlundc GL, Hamiltona B, Mukherjid SK, Teliane SA, Harnsbergera HR. 2006. Absent Semicircular Canals in CHARGE Syndrome: Radiologic Spectrum of Findings. AJNR Am J Neuroradiol 27: 1663– 1671. Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB. 2012. Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet 6: 353– 361. Shen Y, Wan Z, Coarfa C, Drabek R, Chen L, Ostrowski EA, Liu Y, Weinstock GM, Wheeler DA, Gibbs RA, Yu F. 2010. A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res 20: 273– 280. Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D. 2013. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies – Expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis 8: 110. Citing Literature Volume167, Issue4April 2015Pages 914-918 ReferencesRelatedInformation" @default.
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