Mutations in PAX1 may be associated with Klipel-Feil syndrome

European Journal of Human Genetics

Volumn 11, Issue 6, 2003, Pages 468-474

  McGaughran, J M ^a   Oates, A ^b   Donnai, D ^b   Read, A P ^b   Tassabehji, M ^b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Klippel Feil syndrome; Mutations; Paired box gene; PAX1; Vertebral anomalies

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX1; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; INTRON; KLIPPEL FEIL SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; GENETIC SCREENING; HUMANS; KLIPPEL-FEIL SYNDROME; MOLECULAR SEQUENCE DATA; PAIRED BOX TRANSCRIPTION FACTORS; POLYMORPHISM, GENETIC; TRANSCRIPTION FACTORS;

VERTEBRATA;

EID: 0038377914     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200987     Document Type: Article

References (35)

1. Chi N, Epstein JA: Getting your Pax straight: Pax genes in development and disease. Trends Genet 2002; 18: 41-47.
2. Stapleton P, Weith A, Urbanek F, Kozmik Z, Busslinger M: Chromosomal location of seven PAX genes and cloning of a novel family member, PAX-9. Nat Genet 1993; 3: 292-298.
3. Read AP, van Heyningen V: PAX genes in human developmental anomalies. Semin Dev Biol 1994; 5: 323-332.
4. Noll M: Evolution and role of Pax genes. Curr Opin Genet Dev 1993; 3: 595-605.
5. Balling R, Deutsch U, Gruss P: Undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax1. Cell 1988; 55: 531-535.
6. Epstein DJ, Vekemans M, Gros P: Splotch (Sp2H), a mutation affecting development of the mouse neural tube shows a deletion within the paired homeodomain of Pax-3. Cell 1991; 67: 767-774.
7. Hill RE, Favor J, Hogan BLM et al: Mouse Small eye results from mutations in a paired-like homeobox containing gene. Nature 1991; 354: 522-525.
8. Favor J, Sandulache R, Neuhauser-Klaus A et al: The mouse Pax2 mutation is identical to the human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye and kidney. Proc Natl Acad Sci 1996; 93: 13870-13875.
9. Tassabehji M, Read AP, Newton VE et al: Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355: 635-636.
10. Jordan T, Hanson I, Zaletayev D et al: The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1992; 1: 328-332.
11. Hanson IM, Fletcher JM, Jordon T et al: Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 1994; 6: 168-173.
12. Sanyanusin F, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR: Mutations of PAX2 in two siblings with renal-coloboma syndrome. Hum Mol Genet 1995; 4: 2183-2184.
13. Macchia PE, Lapi P, Krude H et al: PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998; 19: 83-86.
14. Das P, Stockton DW, Bauer C et al: Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 2002; 110: 371-376.
15. Chalepakis G, Fritsch R, Fickenscher H, Deutsch U, Goulding M, Gruss P: The molecular basis of the undulated/Pax-1 mutation. Cell 1991; 66: 873-884.
16. Wright ME: Undulated: a new genetic factor in Mus musculus affecting the spine and tail. Heredity 1947; 1: 137-141.
17. Gruneberg H: Genetical studies on the skeleton of the mouse. XII The development of undulated. J Genet 1950; 52: 441-455.
18. Schnittger S, Gopal Rao VVN, Deutsch U, Gruss P, Balling R, Hansmann I: 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 1992; 14: 740-744.
19. Francke U: Abnormalities of chromosomes 11 and 20; in Yunis JJ (ed): new chromosomal syndromes; New York: Academic Press, 1977, pp 245-272.
20. Klippel M, Feil A: Un cas d'absence des vertebres cervicales, avec cage thoracique remontant jusqua'a la base du crane (cage thoracique cervicale). Nouv Iconog Salpetriere 1912; 25: 223.
21. Gray SW, Romaine CR, Skandalakis JE: Congential fusion of the cervical vertebrae. Surg Gynecol Obstet 1964; 118: 373-385.
22. Hensinger RN, Lang JE, MacEwen GD: Klippel-Feil syndrome. A constellation of associated anomalies. J Bone Joint Surg 1974; 56A: 1246.
23. Helmi C, Pruzansky S: Craniofacial and extracranial malformations in the Klippel-Feil syndrome. Cleft Pal J 1980; 17: 65.
24. Ulmer JL, Elster AD, Ginsberg LE, Williams DW: Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of the cervical spine and cord. J Comput Assisted Tomography 1993; 17: 215-224.
25. Fell A: L'absence et la diminution des vertebres cervicales (etude clinique et pathogenique): le syndrome de la reduction numerique cervicale. These de Paris, 1919, pp 1-123.
26. Gunderson CH, Greenspan RH, Glaser GH, Lubs H: Klippel-Feil syndrome: genetic and clinical re-evaluation of cervical fusion. Medicine 1967; 46: 491.
27. Burri M, Tromvoukis Y, Bopp D, Frigerio G, Noll M: Conservation of the paired domain in metazoans and its structure in three isolated human genes. EMBO J 1989; 8: 1183-1190.
28. Clarke RA, Kearsley JH, Walsh DA. Patterned expression in familial Klippel-Feil syndrome. Teratology 1996; 53: 152-157.
29. Richard I, Beckman JS. How neutral are synonymous codon mutations? Nat Genet 1995; 10: 259.
30. Kajiwara K, Berson EL, Dryja TP: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994; 264: 1604-1608.
31. Hol FA, Geurds MP, Chatkupt S et al: PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. J Med Genet 1996; 33: 655-660.
32. Orr-Urtreger A, Bedford MT, Do MS, Eisenbach L, Lonai P: Developmental expression of the alpha receptor for platelet-derived growth factor, which is deleted in the embryonic lethal Patch mutation. Development 1992; 115: 289-303.
33. Lowry RB: The Klippel-Feil anomaly as part of the fetal alcohol syndrome. Teratology 1977; 16: 53-56.
34. Barnes GL, Mariani BD, Tuan RS: Valproic acid-induced somite teratogenesis in the chick embryo: relationship with Pax-1 gene expression. Teratology 1996; 54: 93-102.
35. Clarke RA, Singh S, McKenzie H, Kearsley JH, Yip MY: Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet 1995; 57: 1364-1370.