I K Temple

Summary

Affiliation: University of Southampton
Country: UK

Publications

  1. doi request reprint 6q24 transient neonatal diabetes
    I Karen Temple
    Academic Unit of Genetic Medicine, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK
    Rev Endocr Metab Disord 11:199-204. 2010
  2. ncbi request reprint Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes
    I K Temple
    Southampton University Hospitals NHS Trust and the Department of Human Genetics, University of Southampton, Hampshire, UK
    Diabetes 49:1359-66. 2000
  3. pmc Transient neonatal diabetes, a disorder of imprinting
    I K Temple
    Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Coxford Road, Southampton SO16 5YA, UK
    J Med Genet 39:872-5. 2002
  4. pmc Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
    I K Temple
    Division of Human Genetics, University of Southampton, Southampton, Hampshire, UK
    J Med Genet 44:637-40. 2007
  5. ncbi request reprint Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome
    I Karen Temple
    Wessex Clinical Genetics Academic Group, Division of Human Genetics, University of Southampton, Southampton, UK
    Endocr Dev 12:113-23. 2007
  6. ncbi request reprint Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, SP2 8BJ Salisbury, UK
    Hum Genet 119:179-84. 2006
  7. doi request reprint Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes
    L E Docherty
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Diabetologia 53:2347-51. 2010
  8. ncbi request reprint Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology
    Deborah J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 116:255-61. 2005
  9. doi request reprint Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    Deborah J G Mackay
    Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK
    Nat Genet 40:949-51. 2008
  10. doi request reprint Transient neonatal diabetes mellitus type 1
    Deborah J G Mackay
    University of Southampton, UK
    Am J Med Genet C Semin Med Genet 154:335-42. 2010

Collaborators

Detail Information

Publications27

  1. doi request reprint 6q24 transient neonatal diabetes
    I Karen Temple
    Academic Unit of Genetic Medicine, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK
    Rev Endocr Metab Disord 11:199-204. 2010
    ..In some individuals, diabetes may be the initial presentation of a more complex imprinting disorder due to recessive mutations in the gene ZFP57 and may be associated with other developmental problems...
  2. ncbi request reprint Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes
    I K Temple
    Southampton University Hospitals NHS Trust and the Department of Human Genetics, University of Southampton, Hampshire, UK
    Diabetes 49:1359-66. 2000
    ..The findings are consistent with an imprinted gene for diabetes mapping to 6q24, which we predict will have an important function in normal pancreatic development...
  3. pmc Transient neonatal diabetes, a disorder of imprinting
    I K Temple
    Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Coxford Road, Southampton SO16 5YA, UK
    J Med Genet 39:872-5. 2002
    ..Three genetic mechanisms have been shown to result in TND, paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI...
  4. pmc Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
    I K Temple
    Division of Human Genetics, University of Southampton, Southampton, Hampshire, UK
    J Med Genet 44:637-40. 2007
    ..This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32...
  5. ncbi request reprint Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome
    I Karen Temple
    Wessex Clinical Genetics Academic Group, Division of Human Genetics, University of Southampton, Southampton, UK
    Endocr Dev 12:113-23. 2007
    ..TND and BWS are discussed in more detail as examples of imprinting disorders...
  6. ncbi request reprint Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
    D J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, SP2 8BJ Salisbury, UK
    Hum Genet 119:179-84. 2006
    ..5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease...
  7. doi request reprint Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes
    L E Docherty
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
    Diabetologia 53:2347-51. 2010
    ..Transient neonatal diabetes (TND) is associated with overexpression of genes within a critical region on 6q24. This study aims to refine the boundaries of this region to reduce the number of potential candidate genes for 6q24 TND...
  8. ncbi request reprint Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology
    Deborah J G Mackay
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 116:255-61. 2005
    ..Whereas methylation mutation patients showed a near-total absence of DNA methylation at the TNDM locus, the patients with no identified molecular anomaly showed no marked methylation variation from controls...
  9. doi request reprint Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    Deborah J G Mackay
    Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK
    Nat Genet 40:949-51. 2008
    ..This is the first description of a heritable global imprinting disorder that is compatible with life...
  10. doi request reprint Transient neonatal diabetes mellitus type 1
    Deborah J G Mackay
    University of Southampton, UK
    Am J Med Genet C Semin Med Genet 154:335-42. 2010
    ....
  11. ncbi request reprint Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome
    Helen Cox
    Wessex Clinical Genetics Service, The Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, United Kingdom
    Am J Med Genet A 127:21-5. 2004
    ..Routine screening of DNA from patients with possible PWS cannot be recommended on this basis...
  12. ncbi request reprint Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3
    I K Temple
    Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton University Hospitals Trust, UK
    Clin Dysmorphol 8:157-63. 1999
    ..The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features...
  13. doi request reprint Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
    Rebecca L Poole
    Division of Human Genetics, University of Southampton School of Medicine, Southampton SO16 6YD, UK
    Am J Med Genet A 152:1990-3. 2010
    ..This study demonstrates the potential utility of epigenetic investigation in routine diagnostic testing...
  14. pmc Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers
    K L Lachlan
    Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Southampton, UK
    J Med Genet 44:579-85. 2007
    ..It has been suggested that BRRS and CS are the same condition, but the literature continues to separate them and seek a genotype-phenotype correlation...
  15. pmc Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
    Claire Louise Susan Turner
    Academic Unit of Genetic Medicine, School of Medicine, University of Southampton, Princess Anne Hospital, Southampton, UK
    Eur J Hum Genet 18:648-55. 2010
    ..002). This study in patients with growth restriction shows the importance of widening the epigenetic investigation to include multiple imprinted loci and highlights potential involvement of the IGF2R locus...
  16. ncbi request reprint Zellweger syndrome resulting from maternal isodisomy of chromosome 1
    Claire L S Turner
    Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Princess Anne Hospital, Coxford Road, Southampton, UK
    Am J Med Genet A 143:2172-7. 2007
    ..Other reported cases of UPD1, and evidence for the imprinting of genes on chromosome 1, are reviewed. The molecular findings in this patient have important implications for molecular testing and genetic counseling in ZS...
  17. ncbi request reprint Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    Andrew M Fisher
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 111:290-6. 2002
    ..5 years and Patient 2 showed breast development in infancy. Both patients shared some dysmorphological features, namely short palpebral fissures, a prominent nasal tip, a short philtrum and 5th finger clinodactyly...
  18. doi request reprint Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
    Susanne E Boonen
    Genetic Counselling Clinic, Kennedy Center, Glostrup, Denmark
    Eur J Hum Genet 16:453-61. 2008
    ..The recurrence with affected sibs as reported in this family has implications for genetic counselling...
  19. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  20. pmc NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
    Jenny Douglas
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 72:132-43. 2003
    ..We conclude that intragenic mutations of NSD1 are the major cause of Sotos syndrome and account for some Weaver syndrome cases but rarely occur in other childhood overgrowth phenotypes...
  21. ncbi request reprint Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    Anna L Gloyn
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    N Engl J Med 350:1838-49. 2004
    ..2 subunit of this channel (KCNJ11) cause neonatal diabetes...
  22. ncbi request reprint Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy
    Julian P H Shield
    Department of Endocrinology and Diabetes, Bristol Royal Hospital for Children and University of Bristol, Bristol, UK
    Diabetes 57:255-8. 2008
    ..5. We investigated a male with hemihypertrophy, a condition classically associated with neonatal hyperinsulinemia and hypoglycemia, who developed neonatal diabetes at age 5 weeks...
  23. ncbi request reprint Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome
    Katherine L Lachlan
    Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Southampton SO16 5YA, UK
    Eur J Hum Genet 12:790-6. 2004
    ..Measurement of the serum L-ferritin concentration should be included in the investigation of all individuals with early onset cataracts...
  24. ncbi request reprint Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel
    Anna L Gloyn
    Diabetes and Vascular Medicine, Peninsula Medical School, Exeter EX2 5AX, United Kingdom
    J Clin Endocrinol Metab 89:3932-5. 2004
    ..The possibility of germline mosaicism should be considered when counseling recurrence risks for the parents of a child with an apparently de novo KCNJ11 activating mutation...
  25. ncbi request reprint Relapsing diabetes can result from moderately activating mutations in KCNJ11
    Anna L Gloyn
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, USA
    Hum Mol Genet 14:925-34. 2005
    ..This suggests that a fixed ion channel abnormality can result in a fluctuating glycaemic phenotype. The multiple phenotypes associated with activating KCNJ11 mutations may reflect their severity in vitro...
  26. pmc Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
    Katrina Tatton-Brown
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 77:193-204. 2005
    ..005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness...
  27. pmc Discriminating power of localized three-dimensional facial morphology
    Peter Hammond
    Eastman Dental Institute, University College London, London, WC1X 8LD, United Kingdom
    Am J Hum Genet 77:999-1010. 2005
    ....