Research Topics
Genomes and Genes | Elizabeth C EngleSummaryAffiliation: Harvard University Country: USA Publications
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Publications
Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locusElizabeth 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...- Human genetic disorders of axon guidanceElizabeth 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.... 
The genetic basis of complex strabismusElizabeth C Engle
Program in Genomics, Children s Hospital Boston, MA 02115, USA
Pediatr Res 59:343-8. 2006....- Genetic basis of congenital strabismusElizabeth 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... - Oculomotility disorders arising from disruptions in brainstem motor neuron developmentElizabeth C Engle
Program in Genomics, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
Arch Neurol 64:633-7. 2007.... - 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... - Expansion of the CHN1 strabismus phenotypeNoriko 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... - Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1Wai 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... - A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenonKoki 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... - 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... - Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndromeNoriko 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... - Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive developmentMax 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... - 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.... - Two novel CHN1 mutations in 2 families with Duane retraction syndromeWai 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... - The molecular basis of the congenital fibrosis syndromesElizabeth C Engle
Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
Strabismus 10:125-8. 2002.... - Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesisJoanna 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... - HOXA1 mutations are not a common cause of Möbius syndromeJessica 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... - Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax 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... - Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesisMax 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.... 
Congenital fibrosis of the extraocular musclesGena 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...- Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL familyRaidah 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... - 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)... - CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIXElizabeth C Engle
Division of Genetics, Childrens Hospital, Boston, MA, USA
BMC Genet 3:3. 2002..Thus far, we have not identified ARIX mutations in any affected members of CFEOM1 pedigrees or in any sporadic cases of classic CFEOM... - A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena 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... - High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismusJoseph 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.... - Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael 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... - An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav 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... - Applications of molecular genetics to the understanding of congenital ocular motility disordersElizabeth 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.).. - Allelic diversity in human developmental neurogenetics: insights into biology and diseaseChristopher 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... - Acute ataxia in childhoodMonique 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... - Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locusDavid A Mackey
Royal Victorian Eye and Ear Hospital, Melbourne, Australia
Hum Genet 110:510-2. 2002..0... - Elevation of one eye during tooth brushingIrene 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... - Familial unilateral Brown syndromeAlessandro 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... - Mutations in KIF21A are responsible for CFEOM1 worldwideElias I Traboulsi
Ophthalmic Genet 25:237-9. 2004 - 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... - Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2AThomas 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... - Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locusJoseph 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... - Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsyKey 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... - Congenital fibrosis syndrome associated with central nervous system abnormalitiesChristina Pieh
Department of Strabismus and Neuroophthalmology, Kantonsspital St. Gallen, St. Gallen, Switzerland
Graefes Arch Clin Exp Ophthalmol 241:546-53. 2003..We also describe for the first time the coexistence of CFEOM and Marcus Gunn jaw winking in two siblings. This suggests a genetic mechanism. Aberrant innervation supports primary developmental abnormality of cranial nerves in CFEOM... - Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndromeJoseph 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... - The clinical spectrum of homozygous HOXA1 mutationsThomas 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... - Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21AJoseph 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.... - Genes, brainstem development, and eye movementsElizabeth C Engle
Neurology 59:304-5. 2002
Research Grants
- Genetic Etiologies of Horizontal StrabismusElizabeth Engle; Fiscal Year: 2007..And (5) Initiating structural and functional characterization of the horizontal CCDD genes and their protein products. ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth 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. ..
- MOLECULAR BASIS OF CONGENITAL STRABISMUSElizabeth 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. ..
- Genetic Etiologies of Horizontal StrabismusElizabeth Engle; Fiscal Year: 2007..And (5) Initiating structural and functional characterization of the horizontal CCDD genes and their protein products. ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth 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. ..
- MOLECULAR BASIS OF CONGENITAL STRABISMUSElizabeth 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. ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth 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. ..
- MOLECULAR BASIS OF CONGENITAL STRABISMUSElizabeth Engle; Fiscal Year: 2003..abstract_text> ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth 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. ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth 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. ..