Kym M Boycott

Summary

Affiliation: Children's Hospital of Eastern Ontario
Country: Canada

Publications

  1. pmc Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
    Am J Hum Genet 77:477-83. 2005
  2. ncbi request reprint Autosomal recessive cerebellar hypoplasia in the Hutterite population
    Hannah C Glass
    Division of Neurology, Alberta Children s Hospital, Calgary, Alberta, Canada
    Dev Med Child Neurol 47:691-5. 2005
  3. ncbi request reprint Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 143:1715-25. 2007
  4. ncbi request reprint Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis
    Shashirekha Shetty
    Department of Medical Genetics, Alberta Children s Hospital, Calgary, Alberta, Canada
    Clin Dysmorphol 16:253-6. 2007
  5. pmc The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
    Laura M McDonell
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    BMC Neurol 14:22. 2014
  6. doi request reprint Identification of genes for childhood heritable diseases
    Kym M Boycott
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1 Canada email
    Annu Rev Med 65:19-31. 2014
  7. pmc Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
    Bridget A Fernandez
    Discipline of Genetics, Memorial University of Newfoundland, Health Sciences Centre, St John s, Newfoundland and Labrador, Canada
    BMC Med Genet 13:111. 2012
  8. doi request reprint Clinical genetics and the Hutterite population: a review of Mendelian disorders
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 146:1088-98. 2008
  9. pmc Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    J Child Neurol 24:1310-5. 2009
  10. ncbi request reprint A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 152:1349-56. 2010

Detail Information

Publications34

  1. pmc Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
    Am J Hum Genet 77:477-83. 2005
    ..To our knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect...
  2. ncbi request reprint Autosomal recessive cerebellar hypoplasia in the Hutterite population
    Hannah C Glass
    Division of Neurology, Alberta Children s Hospital, Calgary, Alberta, Canada
    Dev Med Child Neurol 47:691-5. 2005
    ..Neuroimaging is characterized by hypoplasia of the inferior portion of the cerebellar hemispheres and vermis, and mild simplification of cortical gyri...
  3. ncbi request reprint Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 143:1715-25. 2007
    ..Homozygous deletions of NPHP1 and the known loci for JS/JSRD and MKS were excluded by identity-by-descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD...
  4. ncbi request reprint Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis
    Shashirekha Shetty
    Department of Medical Genetics, Alberta Children s Hospital, Calgary, Alberta, Canada
    Clin Dysmorphol 16:253-6. 2007
    ..This case illustrates the need for a systematic molecular study of breakpoints and the surrounding chromosomal regions in patients with apparently balanced rearrangements and phenotypic abnormalities...
  5. pmc The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
    Laura M McDonell
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    BMC Neurol 14:22. 2014
    ..Even for the subset of epilepsy patients that present with a defining feature, such as microcephaly, the number of possible genes that would require interrogation by Sanger sequencing is extensive and often prohibitively expensive...
  6. doi request reprint Identification of genes for childhood heritable diseases
    Kym M Boycott
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1 Canada email
    Annu Rev Med 65:19-31. 2014
    ..Nonetheless, genomic technologies are poised for widespread translation to clinical practice for the benefit of children and families living with these rare diseases. ..
  7. pmc Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
    Bridget A Fernandez
    Discipline of Genetics, Memorial University of Newfoundland, Health Sciences Centre, St John s, Newfoundland and Labrador, Canada
    BMC Med Genet 13:111. 2012
    ..Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2...
  8. doi request reprint Clinical genetics and the Hutterite population: a review of Mendelian disorders
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 146:1088-98. 2008
    ..This review summarizes what is currently understood about the molecular etiology of the Mendelian disorders and highlights the cardinal features of those disorders that are unique to or over-represented in this population...
  9. pmc Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    J Child Neurol 24:1310-5. 2009
    ..Neuroanatomically, the loss-of-function effect of the different mutations is indistinguishable. VLDLR-associated cerebellar hypoplasia is emerging as a panethnic, clinically, and molecularly well-defined genetic syndrome...
  10. ncbi request reprint A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 152:1349-56. 2010
    ..The identification of the gene for this syndrome will provide new insights into development and learning...
  11. pmc Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
    Hugh J McMillan
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Rd, Ottawa, ON K1H 8 L1, Canada
    BMC Med Genet 15:36. 2014
    ..Dominant mutations in GARS cause rare forms of Charcot-Marie-Tooth disease and distal spinal muscular atrophy...
  12. pmc Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
    Laura M McDonell
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    Nat Genet 45:556-62. 2013
    ....
  13. ncbi request reprint FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project
    Chandree L Beaulieu
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada
    Am J Hum Genet 94:809-17. 2014
    ..Lastly, on the basis of this experience, we discuss the way forward for rare-disease genetic discovery both in Canada and internationally. ..
  14. pmc Mutations in PIK3R1 cause SHORT syndrome
    David A Dyment
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada
    Am J Hum Genet 93:158-66. 2013
    ..Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway...
  15. ncbi request reprint Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation
    Sunita Venkateswaran
    Division of Neurology, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Epilepsia 55:e75-9. 2014
    ..This report expands the current phenotype associated with GRIN2A mutations. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here. ..
  16. pmc Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
    Hugh J McMillan
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:90. 2012
    ..Here we report two brothers (16½ and 14 years old) with DBP deficiency characterized by normal early childhood followed by sensorineural hearing loss, progressive cerebellar and sensory ataxia and subclinical retinitis pigmentosa...
  17. pmc Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
    Rebecca L Hood
    Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ontario, Canada
    Am J Hum Genet 90:308-13. 2012
    ..Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS...
  18. doi request reprint Rare-disease genetics in the era of next-generation sequencing: discovery to translation
    Kym M Boycott
    Department of Pediatrics, University of Ottawa and Children s Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, Ontario K1H 8L1, Canada
    Nat Rev Genet 14:681-91. 2013
    ..Last, we explore the increasing therapeutic opportunities and challenges that the resulting expansion of the 'atlas' of human genetic pathology will bring. ..
  19. doi request reprint Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient
    Hugh J McMillan
    Division of Neurology, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Muscle Nerve 39:396-9. 2009
    ..This is the first report of a patient with both neurological diseases, and this case illustrates the clinical utility of microarray technology in the investigation of patients with unusual presentations...
  20. pmc Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
    Lijia Huang
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:67. 2012
    ....
  21. ncbi request reprint Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
    Amanda C Smith
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    J Med Genet 51:470-4. 2014
    ..As part of the FORGE Canada Consortium we studied two unrelated families to identify the genetic aetiology of this rare disease...
  22. pmc 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)
    Christine M Armour
    Department of Pediatrics, Queen s University Kingston General Hospital, 20 Barrie Street, Kingston, Ontario, Canada
    Eur J Hum Genet 19:1144-51. 2011
    ..These findings, along with previously published data, suggest that one locus responsible for this form of SHFLD is located within a 173 kb overlapping critical region, and that the copy gains are incompletely penetrant...
  23. doi request reprint Recent advances in the genetic etiology of brain malformations
    David A Dyment
    Department of Genetics, Children s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, Canada, K1H 8L1
    Curr Neurol Neurosci Rep 13:364. 2013
    ....
  24. pmc TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
    Lijia Huang
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    Am J Hum Genet 89:713-30. 2011
    ..Collectively, our findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes...
  25. pmc Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
    Matthew A Lines
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario, Canada
    Am J Hum Genet 90:369-77. 2012
    ..Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome...
  26. pmc Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals
    Melissa T Carter
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 149:1712-21. 2009
    ..Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals...
  27. pmc Mutations in EZH2 cause Weaver syndrome
    William T Gibson
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Am J Hum Genet 90:110-8. 2012
    ..Sanger sequencing of EZH2 in a third classically-affected proband identified a third de novo mutation in this gene. These data show that mutations in EZH2 cause Weaver syndrome...
  28. ncbi request reprint A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD
    Kym M Boycott
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 122:139-47. 2003
    ..3 region is not always associated with the classic presentations of Léri-Weill syndrome, or chondrodysplasia punctata, and that one or more genes involved in learning and attention may reside in Xp22.3...
  29. ncbi request reprint Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula
    Leah Layman-Pleet
    University of Ottawa Medical School, Ottawa, Ontario, Canada
    J Pediatr Surg 42:E1-3. 2007
    ..Feingold syndrome is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling...
  30. doi request reprint Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment
    Christine M Armour
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 149:2254-7. 2009
    ..He has moderate cognitive handicap and pervasive developmental delay. A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome...
  31. ncbi request reprint A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism
    Aleksandra Mineyko
    Department of Pediatrics, Division of Neurology, Children s Hospital of Eastern Ontario, Ottawa, Canada K1H 8L1
    J Child Neurol 25:738-41. 2010
    ..This patient is one of only a few reported with a missense mutation in LIS1 associated with subcortical band heterotopia, and this is the first report of a mosaic individual having an affected child...
  32. ncbi request reprint Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants
    Amanda Smith
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    Hum Mutat 35:265-9. 2014
    ....
  33. pmc A generalizable pre-clinical research approach for orphan disease therapy
    Chandree L Beaulieu
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:39. 2012
    ..In addition to enabling academic pre-clinical research, strategies such as this may also aid in seeding startup companies, as well as further engaging the pharmaceutical industry in the treatment of rare genetic disease...
  34. doi request reprint PhenoTips: patient phenotyping software for clinical and research use
    Marta Girdea
    Department of Computer Science, University of Toronto, Ontario, Canada
    Hum Mutat 34:1057-65. 2013
    ..Our source code and a demo version of PhenoTips are available at http://phenotips.org. ..