Erratum: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome (Hum Genet, (2013), 132, (1311-1320), 10.1007/s00439-013-1337-9);A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Human Genetics

Volumn 132, Issue 11, 2013, Pages 1311-1320

  Pohl, Esther ^a   Aykut, Ayca ^a,b   Beleggia, Filippo ^a   Karaca, Emin ^b   Durmaz, Burak ^b   Keupp, Katharina ^a   Arslan, Esra ^b   Onay, Melis Palamar ^b   Yigit, Gökhan ^a   Özkinay, Ferda ^b   Wollnik, Bernd ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b EGE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING AFFINITY; BRANCHIOGENIC CYST; COST EFFECTIVENESS ANALYSIS; DNA BINDING; EMBRYO DEVELOPMENT; EXTERNAL EAR MALFORMATION; FACE DYSMORPHIA; GENE; GENE MUTATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; NUCLEOTIDE SEQUENCE; OTOFACIOCERVICAL SYNDROME; PAX1 GENE; PRIORITY JOURNAL; PROMOTER REGION; REGULATORY SEQUENCE; SHOULDER GIRDLE; TRANSCRIPTION REGULATION; TURKEY (REPUBLIC); VERTEBRA MALFORMATION; VERTEBRATE;

VERTEBRATA;

EID: 84888311437     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00221-013-3652-8     Document Type: Erratum

References (30)

1. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, Konig R, Vigneron J, Weissenbach J, Petit C, Weil D (1997a) Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 6:2247-2255
2. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C (1997b) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15:157-164
3. Balling R (1994) The undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue? Clin Dysmorphol 3:185-191
4. Bannykh SI, Emery SC, Gerber JK, Jones KL, Benirschke K, Masliah E (2003) Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. Am J Med Genet A 120A:241-246
5. Bopp D, Burri M, Baumgartner S, Frigerio G, Noll M (1986) Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila. Cell 47:1033-1040
6. Bopp D, Jamet E, Baumgartner S, Burri M, Noll M (1989) Isolation of two tissue-specific Drosophila paired box genes, Pox meso and Pox neuro. EMBO J 8:3447-3457
7. Burri M, Tromvoukis Y, Bopp D, Frigerio G, Noll M (1989) Conservation of the paired domain in metazoans and its structure in three isolated human genes. EMBO J 8:1183-1190
8. Chalepakis G, Fritsch R, Fickenscher H, Deutsch U, Goulding M, Gruss P (1991) The molecular basis of the undulated/Pax-1 mutation. Cell 66:873-884
9. Chi N, Epstein JA (2002) Getting your Pax straight: Pax proteins in development and disease. Trends Genet 18:41-47
10. Cote S, Preiss A, Haller J, Schuh R, Kienlin A, Seifert E, Jackle H (1987) The gooseberry-zipper region of Drosophila: five genes encode different spatially restricted transcripts in the embryo. EMBO J 6:2793-2801
11. Dallapiccola B, Mingarelli R (1995) Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome. J Med Genet 32:816-818
12. Deutsch U, Dressler GR, Gruss P (1988) Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development. Cell 53:617-625
13. Estefania E, Ramirez-Camacho R, Gomar M, Trinidad A, Arellano B, Garcia-Berrocal JR, Verdaguer JM, Vilches C (2005) Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. Ann Hum Genet 70:140-144
14. Fara M, Chlupackova V, Hrivnakova J (1967) Familial oto-facio-cervical dysmorphia. Acta Chir Orthop Traumatol Cech 34:511-520
15. Fischer S, Ludecke HJ, Wieczorek D, Bohringer S, Gillessen-Kaesbach G, Horsthemke B (2006) Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 15:581-587
16. Hol FA, Geurds MP, Chatkupt S, Shugart YY, Balling R, Schrander-Stumpel CT, Johnson WG, Hamel BC, Mariman EC (1996) PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. J Med Genet 33:655-660
17. Kaiser R, Posteguillo EG, Muller D, Just W (2007) Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS). Am J Med Genet A 143A:2185-2188
18. Lang D, Powell SK, Plummer RS, Young KP, Ruggeri BA (2007) PAX genes: roles in development, pathophysiology, and cancer. Biochem Pharmacol 73:1-14
19. McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M (2003) Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet 11:468-474
20. Noll M (1993) Evolution and role of Pax genes. Curr Opin Genet Dev 3:595-605
21. Read AP, van Heyningen V (1994) PAX genes in human developmental anomalies. Semin Dev Biol 5:323-332
22. Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M (2000) Importance of clinical evaluation and molecular testing in branchio-oto-renal (BOR) syndrome and overlapping phenotypes. J Med Genet 37:623-627
23. Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M (2001) Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet 108:398-403
24. Rodrigo I, Hill RE, Balling R, Munsterberg A, Imai K (2003) Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome. Development 130:473-482
25. Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci USA 101:8090-8095
26. Schnittger S, Rao VV, Deutsch U, Gruss P, Balling R, Hansmann I (1992) Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH). Genomics 14:740-744
27. Treisman J, Harris E, Desplan C (1991) The paired box encodes a second DNA-binding domain in the paired homeo domain protein. Genes Dev 5:594-604
28. Wallin J, Wilting J, Koseki H, Fritsch R, Christ B, Balling R (1994) The role of Pax-1 in axial skeleton development. Development 120:1109-1121
29. Wallin J, Eibel H, Neubuser A, Wilting J, Koseki H, Balling R (1996) Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation. Development 122:23-30
30. Wilm B, Dahl E, Peters H, Balling R, Imai K (1998) Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency. Proc Natl Acad Sci USA 95:8692-8697