Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

Human Genetics

Volumn 132, Issue 8, 2013, Pages 885-898

  Czeschik, J C ^a   Voigt, C ^a   Alanay, Y ^b   Albrecht, B ^a   Avci, S ^c   Fitzpatrick, D ^d   Goudie, D R ^e   Hehr, U ^f   Hoogeboom, A J ^g   Kayserili, H ^c   Simsek Kiper, P O ^h   Klein Hitpass, L ^a   Kuechler, A ^a   Lopez Gonzalez V ⁱ   Martin, M ^j   Rahmann, S ^k   Schweiger, B ^k   Splitt, M ^l   Wollnik, B ^m   Ludecke H J ^a   Zeschnigk, M ^a   Wieczorek, D ^a   more..

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b ACIBADEM UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e NHS TAYSIDE   (United Kingdom)

^f UNIVERSITY OF REGENSBURG   (Germany)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h Ihsan Dogramaci Children's Hospital   (Turkey)

ⁱ HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^j TU DORTMUND UNIVERSITY   (Germany)

^k UNIVERSITY OF DUISBURG ESSEN   (Germany)

^l INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^m UNIVERSITY OF COLOGNE   (Germany)

more..

Author keywords

Acrofacial dysostosis; EFTUD2; Exome sequencing; Preaxial limb defect; Radial hypoplasia; SF3B4; Thumb hypoplasia

Indexed keywords

APLASIA; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BRACHYDACTYLY; CAMPTODACTYLY; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINODACTYLY; CONDUCTION DEAFNESS; CONGENITAL HEART MALFORMATION; DYSPLASIA; EFTUD2 GENE; EXOME; EXON; FACE ASYMMETRY; FAMILY HISTORY; FRAMESHIFT MUTATION; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; HUMAN GENOME; HYPOPLASIA; INTRON; MACROSTOMIA; MALE; MANDIBLE HYPOPLASIA; MAXILLA HYPOPLASIA; MICROGNATHIA; MIDFACE HYPOPLASIA; MUTATIONAL ANALYSIS; NAGER ACROFACIAL DYSOSTOSIS; PALPEBRAL FISSURE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RADIUS APLASIA; SEQUENCE ANALYSIS; SF3B4 GENE; SYNDACTYLY; SYNOSTOSIS; THUMB MALFORMATION; TRACHEA STOMA; TRACHEOTOMY;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MANDIBULOFACIAL DYSOSTOSIS; MUTATION; RNA PRECURSORS; RNA-BINDING PROTEINS; SPLICEOSOMES;

EID: 84880918600     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1295-2     Document Type: Article

References (23)

1. Bernier FP, Caluseriu O, Ng S et al (2012) Haploinsufficiency of SF3B4, a component of the Pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90:925-933. doi: 10.1016/j.ajhg.2012.04.004
2. Chemke J, Mogilner BM, Ben-Itzhak I et al (1988) Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet 25:230-232
3. Church DM, Schneider VA, Graves T et al (2011) Modernizing reference genome assemblies. PLoS Biol 9:e1001091. doi: 10.1371/journal.pbio.1001091
4. Dauwerse JG, Dixon J, Seland S et al (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 43:20-22. doi: 10.1038/ng.724
5. DePristo MA, Banks E, Poplin R et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498. doi: 10.1038/ng.806
6. Friedman RA, Wood E, Pransky SM et al (1996) Nager acrofacial dysostosis: management of a difficult airway. Int J Pediatr Otorhinolaryngol 35:69-72
7. Goldstein DJ, Mirkin LD (1988) Nager acrofacial dysostosis: evidence for apparent heterogeneity. Am J Med Genet 30:741-746. doi: 10.1002/ajmg.1320300307
8. Gordon CT, Petit F, Oufadem M et al (2012) EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet 49:737-746. doi: 10.1136/jmedgenet-2012-101173
9. Groeper K, Johnson JO, Braddock SR, Tobias JD (2002) Anaesthetic implications of Nager syndrome. Paediatr Anaesth 12:365-368
10. Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith Júnior A (2006) A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol 15:171-174. doi: 10.1097/01.mcd.0000220603.09661.7e
11. He H, Liyanarachchi S, Akagi K et al (2011) Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 332:238-240. doi: 10.1126/science.1200587
12. Herrmann BW, Karzon R, Molter DW (2005) Otologic and audiologic features of Nager acrofacial dysostosis. Int J Pediatr Otorhinolaryngol 69:1053-1059. doi: 10.1016/j.ijporl.2005.02.011
13. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754-1760. doi: 10.1093/bioinformatics/btp324
14. Lin J-L (2012) Nager syndrome: a case report. Pediatr Neonatol 53:147-150. doi: 10.1016/j.pedneo.2012.01.014
15. Lines MA, Huang L, Schwartzentruber J et al (2012) Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 90:369-377. doi: 10.1016/j.ajhg.2011.12.023
16. Luquetti DV, Hing AV, Rieder MJ et al (2013) "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A 161:108-113. doi: 10.1002/ajmg.a.35696
17. McDonald MT, Gorski JL (1993) Nager acrofacial dysostosis. J Med Genet 30:779-782
18. Nager F, De Reynier J (1948) Das Gehörorgan bei den angeborenen Kopfmissbildungen. Pract Otorhinolaryngol 10:1-128
19. Nagy R, Wang H, Albrecht B et al (2012) Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet 82:140-146. doi: 10.1111/j.1399-0004.2011.01756.x
20. Petit P, Moerman P, Fryns JP (1993) Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome. Genet Couns 4:135-137
21. The Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136. doi: 10.1038/ng0296-130
22. Watanabe H, Shionyu M, Kimura T et al (2007) Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation. J Biol Chem 282:20728-20738. doi: 10.1074/jbc.M703292200
23. Wieczorek D, Gener B, González MJM et al (2009) Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A 149A:837-843. doi: 10.1002/ajmg.a.32747