Elizabeth C Engle

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Genetic basis of congenital strabismus
    Elizabeth C Engle
    Program in Genomics and Department of Neurology, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
    Arch Ophthalmol 125:189-95. 2007
  2. ncbi request reprint Oculomotility disorders arising from disruptions in brainstem motor neuron development
    Elizabeth C Engle
    Program in Genomics, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Arch Neurol 64:633-7. 2007
  3. pmc Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus
    Elizabeth C Engle
    Program in Genomics, Children s Hospital, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 48:189-93. 2007
  4. ncbi request reprint The genetic basis of complex strabismus
    Elizabeth C Engle
    Program in Genomics, Children s Hospital Boston, MA 02115, USA
    Pediatr Res 59:343-8. 2006
  5. pmc Human genetic disorders of axon guidance
    Elizabeth C Engle
    Department of Neurology, FM Kirby Neurobiology Center, Program in Genomics, Children s Hospital Boston, Massachusetts 02115 5737, USA
    Cold Spring Harb Perspect Biol 2:a001784. 2010
  6. ncbi request reprint Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)
    Koki Yamada
    Department of Genetics, Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 45:2218-23. 2004
  7. pmc Expansion of the CHN1 strabismus phenotype
    Noriko Miyake
    Departments of Neurology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 52:6321-8. 2011
  8. pmc An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
    Gustav Y Cederquist
    Department of Neurology, Boston Children s Hospital, Boston, MA, USA
    Hum Mol Genet 21:5484-99. 2012
  9. pmc Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
    Wai Man Chan
    Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
    BMC Genet 8:26. 2007
  10. pmc A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
    Sheena Chew
    Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA
    Brain 136:522-35. 2013

Research Grants

  1. Genetic Etiologies of Horizontal Strabismus
    Elizabeth Engle; Fiscal Year: 2007
  2. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth Engle; Fiscal Year: 2007
  3. MOLECULAR BASIS OF CONGENITAL STRABISMUS
    Elizabeth Engle; Fiscal Year: 2007
  4. Genetic Etiologies of Horizontal Strabismus
    Elizabeth Engle; Fiscal Year: 2007
  5. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth Engle; Fiscal Year: 2007
  6. MOLECULAR BASIS OF CONGENITAL STRABISMUS
    Elizabeth Engle; Fiscal Year: 2009
  7. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth Engle; Fiscal Year: 2009
  8. MOLECULAR BASIS OF CONGENITAL STRABISMUS
    Elizabeth Engle; Fiscal Year: 2003
  9. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth Engle; Fiscal Year: 2005
  10. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth C Engle; Fiscal Year: 2011

Detail Information

Publications44

  1. ncbi request reprint Genetic basis of congenital strabismus
    Elizabeth C Engle
    Program in Genomics and Department of Neurology, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
    Arch Ophthalmol 125:189-95. 2007
    ..Thus, an understanding of the genetic underpinnings of strabismus may help identify patients at risk early enough to prevent disability and may lead to new preventive or therapeutic approaches...
  2. ncbi request reprint Oculomotility disorders arising from disruptions in brainstem motor neuron development
    Elizabeth C Engle
    Program in Genomics, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Arch Neurol 64:633-7. 2007
    ....
  3. pmc Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus
    Elizabeth C Engle
    Program in Genomics, Children s Hospital, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 48:189-93. 2007
    ..Toward the goal of identifying the DURS2 gene, two pedigrees have been ascertained that segregate DRS as a dominant trait...
  4. ncbi request reprint The genetic basis of complex strabismus
    Elizabeth C Engle
    Program in Genomics, Children s Hospital Boston, MA 02115, USA
    Pediatr Res 59:343-8. 2006
    ....
  5. pmc Human genetic disorders of axon guidance
    Elizabeth C Engle
    Department of Neurology, FM Kirby Neurobiology Center, Program in Genomics, Children s Hospital Boston, Massachusetts 02115 5737, USA
    Cold Spring Harb Perspect Biol 2:a001784. 2010
    ....
  6. ncbi request reprint Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)
    Koki Yamada
    Department of Genetics, Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 45:2218-23. 2004
    ..This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3...
  7. pmc Expansion of the CHN1 strabismus phenotype
    Noriko Miyake
    Departments of Neurology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 52:6321-8. 2011
    ..This was a study of five family members with distinctive ocular dysmotility patterns that co-segregated with a novel hyperactivating CHN1 mutation...
  8. pmc An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
    Gustav Y Cederquist
    Department of Neurology, Boston Children s Hospital, Boston, MA, USA
    Hum Mol Genet 21:5484-99. 2012
    ..Together with previous studies, these findings highlight that β-tubulin isotypes function in both conserved and divergent ways to support proper human nervous system development...
  9. pmc Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
    Wai Man Chan
    Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
    BMC Genet 8:26. 2007
    ..To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A...
  10. pmc A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
    Sheena Chew
    Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA
    Brain 136:522-35. 2013
    ..The definition of the TUBB3 E410K syndrome will allow clinicians to identify affected individuals and predict the mutation based on clinical features alone...
  11. ncbi request reprint A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon
    Koki Yamada
    Division of Genetics and Department of Ophthalmology, Children s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
    Arch Ophthalmol 123:1254-9. 2005
    ..To determine whether congenital fibrosis of the extraocular muscles (CFEOM) with Marcus Gunn jaw-winking phenomenon (MG) can result from mutations in the KIF21A gene encoding a kinesin motor protein...
  12. ncbi request reprint Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
    Koki Yamada
    Department of Medicine Genetics, Enders 5, Children s Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Nat Genet 35:318-21. 2003
    ..We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis...
  13. pmc Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome
    Noriko Miyake
    Department of Medicine Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Science 321:839-43. 2008
    ..We conclude that alpha2-chimaerin has a critical developmental function in ocular motor axon pathfinding...
  14. ncbi request reprint Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
    Max A Tischfield
    Department of Medicine, Program in Genomics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Nat Genet 37:1035-7. 2005
    ..This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system...
  15. pmc Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
    Jigar Desai
    Department of Neurology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    Gene Expr Patterns 12:180-8. 2012
    ....
  16. pmc Two novel CHN1 mutations in 2 families with Duane retraction syndrome
    Wai Man Chan
    Department of Neurology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    Arch Ophthalmol 129:649-52. 2011
    ..To determine the genetic cause of Duane retraction syndrome (DRS) in 2 families segregating DRS as a dominant trait...
  17. ncbi request reprint The molecular basis of the congenital fibrosis syndromes
    Elizabeth C Engle
    Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Strabismus 10:125-8. 2002
    ....
  18. pmc HOXA1 mutations are not a common cause of Möbius syndrome
    Jessica K Rankin
    Department of Neurology, Children s Hospital Boston, Boston, Massachusetts, USA
    J AAPOS 14:78-80. 2010
    ..Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population...
  19. pmc Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, CA 90095, USA
    Science 304:1509-13. 2004
    ..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing...
  20. doi request reprint Congenital fibrosis of the extraocular muscles
    Gena Heidary
    Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
    Semin Ophthalmol 23:3-8. 2008
    ..Continued study of this syndrome should help to further elucidate the pathogenesis of eye movement disorders...
  21. pmc Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
    Max A Tischfield
    Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
    Cell 140:74-87. 2010
    ..These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals...
  22. pmc Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis
    Max A Tischfield
    Department of Neurology and Ophthalmology, Manten Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, MA, USA
    Biosci Rep 30:319-30. 2010
    ....
  23. pmc Human disorders of axon guidance
    Alicia A Nugent
    Department of Neurology, FM Kirby Neurobiology Center, and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Curr Opin Neurobiol 22:837-43. 2012
    ....
  24. pmc Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
    Raidah Al-Baradie
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
    Am J Hum Genet 71:1195-9. 2002
    ..SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development...
  25. pmc Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD)
    Deborah K Vanderveen
    Department of Ophthalmology, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
    Mol Vis 17:3333-8. 2011
    ..To describe phenotypic characteristics of two pedigrees manifesting early onset crystalline cataract with mutations in the γD-crystallin gene (CRYGD)...
  26. pmc CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX
    Elizabeth C Engle
    Division of Genetics, Childrens Hospital, Boston, MA, USA
    BMC Genet 3:3. 2002
    ....
  27. pmc Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
    Michael S L Ching
    Division of Developmental Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am J Med Genet B Neuropsychiatr Genet 153:937-47. 2010
    ..Our study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders...
  28. pmc High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus
    Joseph L Demer
    Department of Ophthalmology, Jules Stein Dye Institute, University of California, Los Angeles, California 90095 7002, and Department of Medicine, Children s Hospital Boston, MA, USA
    J AAPOS 10:135-42. 2006
    ....
  29. ncbi request reprint Applications of molecular genetics to the understanding of congenital ocular motility disorders
    Elizabeth C Engle
    Neurology and Pediatrics Genetics Children s Hospital, Boston, Massachusetts, USA
    Ann N Y Acad Sci 956:55-63. 2002
    ..Functional studies of the CFEOM genes should provide additional insight into the unique features of the extraocular lower motor neuron axis in health and disease. (For full (refs. 1-9), see reference list of the main paper.)..
  30. pmc Allelic diversity in human developmental neurogenetics: insights into biology and disease
    Christopher A Walsh
    Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children s Hospital, Boston, MA 02115, USA
    Neuron 68:245-53. 2010
    ..These diverse alleles not only provide a platform for discovery of critical protein-protein interactions in a genetic fashion, but also illuminate the likely genetic architecture of as yet poorly characterized neurological disorders...
  31. ncbi request reprint Acute ataxia in childhood
    Monique M Ryan
    Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
    J Child Neurol 18:309-16. 2003
    ..In this review, the various causes and syndromes of acute ataxia in childhood are described, with discussion of diagnostic considerations and an approach to investigation, treatment, and prognosis...
  32. ncbi request reprint Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
    David A Mackey
    Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Hum Genet 110:510-2. 2002
    ..0...
  33. ncbi request reprint Mutations in KIF21A are responsible for CFEOM1 worldwide
    Elias I Traboulsi
    Ophthalmic Genet 25:237-9. 2004
  34. ncbi request reprint Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A
    Thomas M Bosley
    Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Brain 129:2363-74. 2006
    ..Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes...
  35. pmc Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus
    Joseph L Demer
    Department of Ophthalmology, UCLA, Los Angeles, CA 90095 7002, USA
    Invest Ophthalmol Vis Sci 48:194-202. 2007
    ..High-resolution, multipositional magnetic resonance imaging (MRI) was used to demonstrate extraocular muscles (EOMs) and associated motor nerves in Duane retraction syndrome (DRS) linked to the DURS2 locus on chromosome 2...
  36. ncbi request reprint Elevation of one eye during tooth brushing
    Irene Gottlob
    Department of Ophthalmology, Leicester Warwick Medical School, United Kingdom
    Am J Ophthalmol 134:459-60. 2002
    ..To describe a patient with congenital fibrosis of the extraocular muscles (CFEOM) and elevation of one eye during tooth brushing...
  37. pmc The clinical spectrum of homozygous HOXA1 mutations
    Thomas M Bosley
    The Neuro ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Am J Med Genet A 146:1235-40. 2008
    ..These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum...
  38. ncbi request reprint A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2)
    Ahmad Yazdani
    Department of Pediatric Ophthalmology and Strabismus and the Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Am J Ophthalmol 136:861-5. 2003
    ..To describe the clinical features of two affected members of an Iranian family with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) and to report their novel mutation in the PHOX2A/ARIX gene...
  39. pmc Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy
    Key Hwan Lim
    Jules Stein Eye Institute, Department of Ophthalmology, University of California Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA
    Invest Ophthalmol Vis Sci 48:1601-6. 2007
    ..A quantitative MRI technique was developed to study the oculomotor nerve (CN3) and applied to congenital fibrosis of extraocular muscles (CFEOM) and congenital oculomotor palsy...
  40. ncbi request reprint Familial unilateral Brown syndrome
    Alessandro Iannaccone
    Department of Ophthalmology, University of Tennessee, Memphis, TN 38163, USA
    Ophthalmic Genet 23:175-84. 2002
    ..To report a family in which three siblings have unilateral late-onset Brown syndrome...
  41. ncbi request reprint Congenital fibrosis syndrome associated with central nervous system abnormalities
    Christina Pieh
    Department of Strabismus and Neuroophthalmology, Kantonsspital St Gallen, St Gallen, Switzerland
    Graefes Arch Clin Exp Ophthalmol 241:546-53. 2003
    ..Only a few patients with CFEOM and additional central nervous system malformations have been reported. We describe four additional patients with CFEOM associated with central nervous system (CNS) abnormalities...
  42. pmc Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome
    Joseph L Demer
    Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, CA 90095 7002, USA
    Invest Ophthalmol Vis Sci 48:5505-11. 2007
    ..The authors used magnetic resonance imaging (MRI) to study extraocular muscles (EOMs) and nerves in Duane-radial ray (Okihiro) syndrome (DRRS) caused by mutations in the transcription factor SALL4...
  43. ncbi request reprint Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A
    Joseph L Demer
    Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095 7002, USA
    Invest Ophthalmol Vis Sci 46:530-9. 2005
    ....
  44. ncbi request reprint Genes, brainstem development, and eye movements
    Elizabeth C Engle
    Neurology 59:304-5. 2002

Research Grants29

  1. Genetic Etiologies of Horizontal Strabismus
    Elizabeth Engle; Fiscal Year: 2007
    ..And (5) Initiating structural and functional characterization of the horizontal CCDD genes and their protein products. ..
  2. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth Engle; Fiscal Year: 2007
    ..Aim 3: Define the cellular consequences of the R954W amino acid substitution on the developing and mature ocular motor axis in mice. Aim 4: Identify KIF21A protein binding partners. ..
  3. MOLECULAR BASIS OF CONGENITAL STRABISMUS
    Elizabeth Engle; Fiscal Year: 2007
    ..Aim 3. Identify new vertical CCDD loci by SNP-based genome screens of unmapped pedigrees. Aim 4. Initiate structural and functional characterization of the FEOM3 and PTOS1 genes and their protein products. ..
  4. Genetic Etiologies of Horizontal Strabismus
    Elizabeth Engle; Fiscal Year: 2007
    ..And (5) Initiating structural and functional characterization of the horizontal CCDD genes and their protein products. ..
  5. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth Engle; Fiscal Year: 2007
    ..Aim 3: Define the cellular consequences of the R954W amino acid substitution on the developing and mature ocular motor axis in mice. Aim 4: Identify KIF21A protein binding partners. ..
  6. MOLECULAR BASIS OF CONGENITAL STRABISMUS
    Elizabeth Engle; Fiscal Year: 2009
    ..Aim 3. Identify new vertical CCDD loci by SNP-based genome screens of unmapped pedigrees. Aim 4. Initiate structural and functional characterization of the FEOM3 and PTOS1 genes and their protein products. ..
  7. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth Engle; Fiscal Year: 2009
    ..Aim 3: Define the cellular consequences of the R954W amino acid substitution on the developing and mature ocular motor axis in mice. Aim 4: Identify KIF21A protein binding partners. ..
  8. MOLECULAR BASIS OF CONGENITAL STRABISMUS
    Elizabeth Engle; Fiscal Year: 2003
    ..abstract_text> ..
  9. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth Engle; Fiscal Year: 2005
    ..These data will be invaluable to our understanding of the developmental roles of these genes, and should also contribute to improved therapy of the fibrosis syndromes. ..
  10. Genetic and anatomic basis of the fibrosis syndromes
    Elizabeth C Engle; Fiscal Year: 2011
    ..Aim 3: Define the cellular consequences of the R954W amino acid substitution on the developing and mature ocular motor axis in mice. Aim 4: Identify KIF21A protein binding partners. ..