Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree

Journal of Clinical Laboratory Analysis

Volumn 20, Issue 4, 2006, Pages 133-138

  Cheng, Baowen ^a   Dong, Yongli ^a   He, Li ^a   Tang, Wenru ^a   Yu, Haijing ^a   Lu, Jing ^a   Xu, Lin ^a   Zheng, Bingrong ^a   Li, Kaiyuan ^a   Xiao, Chunjie ^a  

^a YUNNAN UNIVERSITY   (China)

Author keywords

Chromosome 7p15 q11.23; Limb development; Linkage; Truncated protein

Indexed keywords

CYTOSINE; GENE PRODUCT; MUTANT PROTEIN; THYMINE; TRANSCRIPTION FACTOR GLI3; UNCLASSIFIED DRUG;

ARTICLE; CHINESE; CHROMOSOME 13Q; CHROMOSOME 19P; CHROMOSOME 2Q; CHROMOSOME 7P; CHROMOSOME 7Q; CLINICAL ARTICLE; CONTROLLED STUDY; CROSSED POLYDACTYLY; EXON; GENE; GENE MAPPING; GENETIC LINKAGE; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; GLI3 GENE; HEREDITY; HUMAN; LIMB MALFORMATION; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYDACTYLY;

ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 7; DNA MUTATIONAL ANALYSIS; FEMALE; FINGERS; GENETIC MARKERS; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; LINKAGE (GENETICS); MALE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYDACTYLY; TOES;

EID: 33746890839     PISSN: 08878013     EISSN: 10982825     Source Type: Journal    
DOI: 10.1002/jcla.20121     Document Type: Article

References (21)

1. Biesecker LG. Poydactyly: how many disorders and how many genes? Am J Med Genet 2002;112:279-283.
2. Giorgini MJ, Kass AA, Sollitto RJ, Midenberg ML. Crossed polydactyly. a case report. J Foot Surg 1979;18:159-163.
3. Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXDI3. Science 1996;272:548-551.
4. Sarfarazi M, Akarsu AN, Sayli BS. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Hum Mol Genet 1995;4:1453-1458.
5. Heus HG, Hing A, Van Baren MJ, Joosse M. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics 1999;57:342-351.
6. Akarsu AN, Ozbas F, Kostakoglu N. Mapping of the second locus of postaxial polydactyly type A (PAP-A2) to chromosome 13q21-q32. Am J Hum Genet 1997;61(Suppl):A265.
7. Zhao H, Tian Y, Guido B, Breedveld G, Huang S, Zou Y, Jue Y. Postaxial polydactyly type A/B(PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. Eur J Hum Genet 2002;10:162-166.
8. Dominguez M, Brunner M, Hafen E, Basler K. Sending and receiving the hedgehog signal: control by the Drosophila GLI protein Cubitus interruptus. Science 1996;272:1621-1625.
9. Welscher PT, Zuniga A, Kuijper S, et al. Progression of vertebrate limb development through Shh-mediated counteraction of GLI3. Science 2002;298:827-830.
10. Litingtung Y, Dahn RD, Li Y, Fallon JF, Chiang C. Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity. Nature 2002;418:979-983.
11. Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, Koning R, Grzeschik KH. Point mutation in human GLI3 causes Greig syndrome. Hum Mol Genet 1997;6:1979-1984.
12. Kang S, Graham JMJ, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997;15:266-268.
13. Radhakrishna U, Blouin J, Mehenni H, et al. Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am J Hum Genet 1997;60:597-604.
14. Radhakrishna U, Bornholdt D, Scott HS. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B: no phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 1999;65:645-655.
15. Gross-Bellard M, Oudet P, Chambon P. Isolation of high molecular weight DNA from mammalian cells. Eur J Biochem 1973;36:32-38.
16. Cheng B, Cheng G, Zhang H. A study of forensic individual identification used PCR locus with silver staining and multiplex PCR methods. Hereditas (Beijing) 2002;24:15-18.
17. Mathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446.
18. Kang S, Rosenberg M, Ko VD, Biesecker LG. Gene structure and allelic expression assay of the human GLI3 gene. Hum Genet 1997;101:154-157.
19. Ishikiriyama S, Sawada H, Nambu H, Nikawa N. Crossed polydactyly type I in a mother and son: an autosomal dominant trait? Am J Med Genet 1991;40:41-43.
20. Johnston JJ, Olivos-Glander I, Killoran C, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005;76:609-622.
21. Lettice LA, Horikoshi T, Heaney SJH, Van Baren MJ. Disruption of a long-range cis-acting regulator for SHH causes preaxial polydactyly. Proc Natl Acad Sci USA. 2002;99:7548-7553.