Jozef Gecz

Summary

Affiliation: University of Adelaide
Country: Australia

Publications

  1. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
  2. pmc A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
    Kathryn Hattersley
    Department of Ophthalmology, Flinders University, Adelaide, SA, Australia
    BMC Med Genet 11:165. 2010
  3. pmc XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
    Monica L Stepp
    J C Self Research Institute, Genetic Center, Greenwood, S C USA
    BMC Med Genet 6:16. 2005
  4. pmc TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
    Christiane Christophe-Hobertus
    Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire IRIBHM, Universite Libre de Bruxelles, IBMM, B 6041 Gosselies, Belgium
    BMC Med Genet 5:22. 2004
  5. ncbi request reprint The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)
    Jozef Gecz
    Neurogenetics Laboratory, Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Eur J Hum Genet 14:1233-7. 2006
  6. ncbi request reprint The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain
    Jozef Gecz
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia 5006
    Front Biosci 9:1-7. 2004
  7. ncbi request reprint Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not
    Jozef Gecz
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Gene 320:137-44. 2003
  8. doi request reprint Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
    Kim Hynes
    SA Pathology, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
    J Med Genet 47:211-6. 2010
  9. pmc Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)
    Tod Fullston
    Department of Genetics and Molecular Pathology, Neurogenetics Laboratory, SA Pathology, Adelaide, Australia
    Eur J Hum Genet 18:157-62. 2010
  10. ncbi request reprint Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
    Karen M Lower
    Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women s and Children s Hospital, 72 King William Rd, North Adelaide, SA 5006, Australia
    Nat Genet 32:661-5. 2002

Collaborators

Detail Information

Publications26

  1. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
    ..Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated...
  2. pmc A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
    Kathryn Hattersley
    Department of Ophthalmology, Flinders University, Adelaide, SA, Australia
    BMC Med Genet 11:165. 2010
    ..Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family...
  3. pmc XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
    Monica L Stepp
    J C Self Research Institute, Genetic Center, Greenwood, S C USA
    BMC Med Genet 6:16. 2005
    ..The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a panel of XLMR families linked to Xp22 was tested for this particular ARX mutation...
  4. pmc TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
    Christiane Christophe-Hobertus
    Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire IRIBHM, Universite Libre de Bruxelles, IBMM, B 6041 Gosselies, Belgium
    BMC Med Genet 5:22. 2004
    ..1. The hypothesis that mutations in the TM4SF10 gene are associated with impaired brain function was investigated by sequencing the gene in individuals with hereditary X-linked mental retardation (XLMR)...
  5. ncbi request reprint The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)
    Jozef Gecz
    Neurogenetics Laboratory, Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Eur J Hum Genet 14:1233-7. 2006
    ..Summarizing recent clinical and molecular studies of this X-chromosome linked mental retardation syndrome we aim to offer a useful resource for its identification among the affected male and female subjects...
  6. ncbi request reprint The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain
    Jozef Gecz
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia 5006
    Front Biosci 9:1-7. 2004
    ..Such genes with naturally occurring mutations provide an invaluable opportunity for identifying the pathways essential for the normal function of the brain. Once identified, cellular and animal models can then be used for experimentation..
  7. ncbi request reprint Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not
    Jozef Gecz
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Gene 320:137-44. 2003
    ....
  8. doi request reprint Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
    Kim Hynes
    SA Pathology, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
    J Med Genet 47:211-6. 2010
    ..Mutations in the protocadherin 19 (PCDH19) gene have been identified in seven unrelated families with EFMR...
  9. pmc Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)
    Tod Fullston
    Department of Genetics and Molecular Pathology, Neurogenetics Laboratory, SA Pathology, Adelaide, Australia
    Eur J Hum Genet 18:157-62. 2010
    ....
  10. ncbi request reprint Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
    Karen M Lower
    Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women s and Children s Hospital, 72 King William Rd, North Adelaide, SA 5006, Australia
    Nat Genet 32:661-5. 2002
    ..Such localization, and the presence of two PHD-like zinc fingers, is suggestive of a role for PHF6 in transcription...
  11. pmc Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
    Cheryl Shoubridge
    Neurogenetics Laboratory, Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Eur J Hum Genet 20:1311-4. 2012
    ..429_452dup mutation may be due to asymmetry of meiosis in the oocyte. Our findings may have implications for genetic counselling of families segregating the c.429_452dup mutation and allude to putative role of ARX in oocyte biology...
  12. doi request reprint ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Hum Mol Genet 21:1639-47. 2012
    ..In conclusion, the missense mutations in the ARX homeodomain represent loss-of-function mutations, which lead to a reduced or complete loss of DNA binding and as a consequence, a loss of transcriptional repression...
  13. ncbi request reprint Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
    Cheryl Shoubridge
    Department of Genetic Medicine, Women s and Children s Hospital, Adelaide 5006, Australia
    Genomics 90:59-71. 2007
    ..We established the nuclear localization regions of the ARX homeodomain that were required for the interaction with IPO13 and correct localization of the full-length ARX transcription factor to the nucleus...
  14. ncbi request reprint Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
    Petter Strømme
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Brain Dev 24:266-8. 2002
    ..These data suggest that mutations in the ARX gene are important causes of MR, often associated with diverse neurological manifestations...
  15. doi request reprint ARX spectrum disorders: making inroads into the molecular pathology
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Hum Mutat 31:889-900. 2010
    ....
  16. ncbi request reprint X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3
    Agi K Gedeon
    Centre for Medical Genetics, Department of Laboratory Genetics, Women s and Children s Hospital, Adelaide, Australia
    Am J Med Genet A 120:509-17. 2003
    ..The C to A base change abolishes a PvuII restriction enzyme site providing the basis for a simple test, if required, for carrier detection and prenatal diagnosis in the extended family...
  17. ncbi request reprint Polyalanine tract disorders and neurocognitive phenotypes
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Adv Exp Med Biol 769:185-203. 2012
    ..Gaining insights into the mechanisms that underlie the pathogenesis of different expanded polyalanine tract mutations will be a necessary step on the path to the design of potential treatment strategies for the associated diseases...
  18. ncbi request reprint ARX: a gene for all seasons
    Jozef Gecz
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Curr Opin Genet Dev 16:308-16. 2006
    ..Pax4 was identified as one of the ARX target genes, and both proteins have crucial functions in endocrine mouse pancreas alpha-cell and beta-cell lineage specification...
  19. pmc X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    Leanne M Dibbens
    Department of Genetic Medicine, Level 9 Rieger Building, Women s and Children s Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia
    Nat Genet 40:776-81. 2008
    ..PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation...
  20. pmc Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
    Cheryl Shoubridge
    Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
    Nat Genet 42:486-8. 2010
    ..In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing...
  21. pmc A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
    Lingli Huang
    Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia
    Am J Hum Genet 91:694-702. 2012
    ..Two other nonsynonymous, potentially deleterious changes have been identified by X-exome sequencing in individuals with intellectual disability, implicating HCFC1 in normal brain function...
  22. doi request reprint Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia
    Tod Fullston
    SA Pathology, Women s and Children s Hospital, Adelaide, South Australia 5006, Australia
    Am J Med Genet B Neuropsychiatr Genet 156:204-14. 2011
    ....
  23. doi request reprint The genetic landscape of intellectual disability arising from chromosome X
    Jozef Gecz
    Molecular Pathology, SA Pathology at Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Trends Genet 25:308-16. 2009
    ..1% of the total landscape, which arguably remains only about half complete. There remain many hills to climb and valleys to cross before the ID landscape is fully triangulated...
  24. ncbi request reprint A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation
    Marie A Shaw
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, SA, Australia
    Eur J Hum Genet 10:767-72. 2002
    ..Finally, we were able to reactivate FAM11A transcription by treatment of a FRAXF lymphoblastoid cell line with the demethylating agent 5-azadeoxycytidine, thus demonstrating the critical role of FRAXF methylation in FAM11A silencing...
  25. ncbi request reprint Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
    Petter Strømme
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Nat Genet 30:441-5. 2002
    ..In addition, we have identified a missense mutation within the ARX homeodomain and a truncation mutation. Thus, it would seem that mutation of ARX is a major contributor to X-linked mental retardation and epilepsy...
  26. doi request reprint Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1
    Christopher P Barnett
    South Australian Clinical Genetics Service, Women s and Children s Hospital SA Pathology, North Adelaide, South Australia, Australia
    Am J Med Genet A 158:3168-73. 2012
    ..We conclude that deletions at 14q13.3 adjacent to but not involving NKX2-1 can cause choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome...