Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

European Journal of Medical Genetics

Volumn 49, Issue 4, 2006, Pages 338-345

  Schwarzbraun, Thomas ^a   Windpassinger, Christian ^a   Ofner, Lisa ^a   Vincent, John B ^b   Cheung, Joseph ^c   Scherer, Stephen W ^c   Wagner, Klaus ^a   Kroisel, Peter M ^a   Petek, Erwin ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

CGS; FISH analysis; GCPS; GLI3; Greig cephalopolysyndactyly syndrome; Microdeletion; Mutation screening; PGAM2; Phenotype genotype correlation; Polymorphic marker analysis

Indexed keywords

GENOMIC DNA; GLUCOKINASE; GLI3 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; MICROSATELLITE DNA; NERVE PROTEIN;

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOME 7P; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOGENETICS; FAMILY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENOME ANALYSIS; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; HETEROZYGOSITY LOSS; HUMAN; MATURITY ONSET DIABETES MELLITUS; MICROSATELLITE MARKER; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; MYOPATHY; NUCLEOTIDE SEQUENCE; PARENT; SYMPTOMATOLOGY; CHROMOSOME 7; CRANIOFACIAL MALFORMATION; GENETIC PROCEDURES; GENETICS; GENOME; LIMB MALFORMATION; MULTIPLE MALFORMATION SYNDROME; SYNDROME;

BACTERIA (MICROORGANISMS);

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; CRANIOFACIAL ABNORMALITIES; GENETIC TECHNIQUES; GENOME; GLUCOKINASE; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; LIMB DEFORMITIES, CONGENITAL; MICROSATELLITE REPEATS; NERVE TISSUE PROTEINS; SYNDROME;

EID: 33745628049     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.10.133     Document Type: Article

References (12)

1. Debeer P., Peeters H., Driess S., De Smet L., Freese K., Matthijs G., Bornholdt D., Devriendt K., Grzeschik K.H., Fryns J.P., and Kalff-Suske M. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am. J. Med. Genet. 120A (2003) 49-58
2. DiMauro S., Miranda A.F., Khan S., Gitlin K., and Friedman R. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science 212 (1981) 1277-1279
3. Greig D.M. Oxycephaly. Edinburgh Med. J. 33 (1928) 189-218
4. Johnston J.J., Olivos-Glander I., Turner J., Aleck K., Bird L.M., Mehta L., Schimke R.N., Heilstedt H., Spence J.E., Blancato J., and Biesecker L.G. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am. J. Med. Genet. 123A (2003) 236-242
5. Kent W.J., Sugnet C.W., Furey T.S., Roskin K.M., Pringle T.H., Zahler A.M., and Haussler D. The human genome browser at UCSC. Genome Res. 12 (2002) 996-1006
6. Kroisel P.M., Petek E., and Wagner K. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am. J. Med. Genet. 102 (2001) 243-249
7. McKusick V.A. Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders (1998), Johns Hopkins University Press, Baltimore (12th edition)
8. Mendoza-Londono R., Kashork C.D., Shaffer L.G., Krance R., and Plon S.E. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del (7) (p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes Chromosomes Cancer 42 (2005) 82-86
9. Petek E., Kroisel P.M., and Wagner K. Isolation of site-specific insert probes from chimeric YACs. Biotechniques 23 (1997) (72, 74, 77)
10. Sambrook J., Fritsch E.F., and Maniatis T. Molecular Cloning: a Laboratory Manual, second ed (1989), Cold Spring Harbor Laboratory Press, New York 9.16-9.23
11. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., et al. Human chromosome 7: DNA sequence and biology. Science 300 (2003) 767-772
12. Vionnet N., Stoffel M., Takeda J., Yasuda K., Bell G.I., Zouali H., Lesage S., Velho G., Iris F., Passa P., Froguel P.H., and Cohen D. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356 (1992) 721-722