Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

American Journal of Human Genetics

Volumn 64, Issue 2, 1999, Pages 435-445

  Kohlhase, Jürgen ^a   Taschner, Peter E M ^b   Burfeind, Peter ^a   Pasche, Bastian ^a   Newman, Bill ^d   Blanck, Christopher ^a   Breuning, Martijn H ^b   Ten Kate, Leo P ^e   Maaswinkel Mooy, Petra ^c   Mitulla, Beate ^f   Seidel, Jörg ^g   Kirkpatrick, Susan J ^h   Pauli, Richard M ^h   Wargowski, David S ^h   Devriendt, Koen ⁱ   Proesmans, Willem ⁱ   Gabrielli, Orazio ^j   Coppa, Giovanni V ^j   Swaay, Eveline Wesby Van ^k   Trembath, Richard C ^l   Schinzel, Albert A ^m   Reardon, William ⁿ   Seemanova, Eva ^o   Engel, Wolfgang ^a   more..

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b LEIDEN UNIVERSITY   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ST MARY S HOSPITAL   (United Kingdom)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Klinikum Suhl   (Germany)

^g JENA UNIVERSITY HOSPITAL   (Germany)

^h UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^k ERASMUS MEDICAL CENTER   (Netherlands)

^l LEICESTER ROYAL INFIRMARY   (United Kingdom)

^m UNIVERSITY OF ZURICH   (Switzerland)

ⁿ ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^o CHARLES UNIVERSITY   (Czech Republic)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SALL1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

ANUS ATRESIA; ARTICLE; EXON; FEMALE; FRAMESHIFT MUTATION; GENETIC POLYMORPHISM; GENETICS; HUMAN; MALE; MOLECULAR CLONING; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PERCEPTION DEAFNESS; SYNDROME;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; BASE SEQUENCE; CLONING, MOLECULAR; EXONS; FEMALE; FRAMESHIFT MUTATION; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; SYNDROME; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 0033073849     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302238     Document Type: Article

References (30)

1. Antonarakis SE (1998) Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1-3
2. Barakat A, Butler M, Salter J, Fogo A (1988) Townes-Brocks syndrome: report of three additional patients with previously undescribed renal and cardiac abnormalities. Dysmorph Clin Genet 2:104-108
3. Biesecker LG (1997) Strike three for GLI3. Nat Genet 17: 259-260
4. Cameron TH, Lachiewicz AM, Aylsworth AS (1991) Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet 41:1-4
5. de Celis JF, Barrio R, Kafatos FC (1996) A gene complex acting downstream of dpp in Drosophila wing morphogenesis. Nature 381:421-424
6. de Pina-Neto JM (1984) Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet 18:147-152
7. de Vries-van der Weerd M-ACS, Willems PJ, Mandema HM, ten Kate LP (1988) A new family with the Townes-Brocks syndrome. Clin Genet 34:195-200
8. Gabrielli O, Bonifazi V, Offidani AM, Cellini A, Coppa GV, Giorgi PL (1993) Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome. Minerva Pediatr 45:459-462
9. Ioannou PA, Amemiya CT, Garnes J, Kroisel PM, Shizuya H, Chen C, Batzer MA, et al (1994) A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat Genet 6:84-89
10. Ishikiriyama S, Kudoh F, Shimojo N, Iwai J, Inoue T (1996) Townes-Brocks syndrome associated with mental retardation. Am J Med Genet 61:191-192
11. Johnson JP, Poskanzer LS, Sherman S (1996) Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. Am J Med Genet 61:134-139
12. Kang S, Graham JM Jr, Olney AH, Biesecker LG (1997) GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 15:266-268
13. Kohlhase J, Schuh R, Dowe G, Kühnlein RP, Jäckle H, Schroeder B, Schulz-Schaeffer W, et al. (1996) Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics 38:291-298
14. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18: 81-83
15. Köster R, Stick R, Loosli F, Wittbrodt J (1997) Medaka spalt acts as a target gene of hedgehog signalling. Development 124:3147-3156
16. Kurnit DM, Steele MW, Pinsky L, Dibbins A (1978) Autosomal-dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. J Pediatr 93: 270-273
17. Lecuit T, Brook WJ, Ng M, Calleja M, Sun H, Cohen SM (1996) Two distinct mechanisms for long-range patterning by Decapentaplegic in the Drosophila wing. Nature 381: 387-393
18. Moeschler J, Clarren SK (1982) Familial occurrence of hemifacial microsomia with radial limb defects. Am J Med Genet 12:371-375
19. Nellen D, Burke R, Struhl G, Basler K (1996) Direct and long-range action of a DPP morphogen gradient. Cell 85:357-368
20. Newman WG, Brunet MD, Donnai D (1997) Townes-Brocks syndrome presenting as end stage renal failure. Clin Dysmorphol 6:57-60
21. O'Callaghan M, Young ID (1990) The Townes-Brocks syndrome. J Med Genet 27:457-461
22. O'Callaghan M, Young ID (1995) Townes-Brocks syndrome. In: Donnai D, Winter R (eds) Congenital malformation syndromes. Chapman and Hall, London, pp 326-332
23. Radhakrishna U, Wild A, Grzeschik K-H, Antonarakis SE (1997) Mutation in GLI3 in postaxial polydactyly type A. Nat Genet 17:269-271
24. Reid IS, Turner G (1976) Familial anal abnormality. J Pediatr 88:992-994
25. Rossmiller DR, Pasic TR (1994) Hearing loss in Townes-Brocks syndrome. Otolaryngol Head Neck Surg 111: 175-180
26. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
27. Townes PL, Brocks ER (1972) Hereditary syndrome of imperforate anus with hand, foot and ear anomalies. J Pediatr 8:321-326
28. Walpole IR, Hockey A (1982) Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. J Pediatr 100:250-252
29. Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, König R, Grzeschik K-H (1997) Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet 6:1979-1984
30. Wischermann A, Holschneider AM (1997) Townes-Brocks-Syndrom. Monatsschr Kinderheilkd 145:382-386