Elizabeth Engle, MD

Senior Neurologist, Department of Neurology

Professor of Neurology and Ophthalmology, Harvard Medical School

Phone 617-919-4030

Fax 617-730-4834

NPI 1972521276

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Elizabeth Engle, MD

Senior Neurologist, Department of Neurology

Professor of Neurology and Ophthalmology, Harvard Medical School

Medical Services

Languages

English

Education

Medical School

Johns Hopkins Hospital

1985

Baltimore

Residency

Combined Residency Program, Pediatrics

Johns Hopkins Hospital

1988

Baltimore

Residency

Neuropathology

Massachusetts General Hospital

1989

Boston

Residency

Combined Harvard Neurology Training Program; Neurology/Child Neurology

Boston Children's Hospital

1992

Boston

Fellowship

Genetics Research

Boston Children's Hospital

1996

Boston

Certifications

American Board of Psychiatry and Neurology (Child and Adolescent Neurology)

Professional History

Dr. Engle received her B.A. from Middlebury College and her M.D. from Johns Hopkins University School of Medicine. She trained in pediatrics at Johns Hopkins, in neuropathology at Massachusetts General Hospital, and in adult and child neurology in the Longwood Neurology Training Program and Boston Children’s Hospital. Nearing the end of her neurology residency, Dr. Engle cared for a toddler born with a complex eye movement disorder that segregated in his family as a dominant trait. Interested in the etiology of his rare disorder, she pursued a research fellowship in genetics. Dr. Engle’s research career now spans from patients through genetics to molecular mechanisms in order to understand human brainstem and cranial nerve development. Her work has defined the human congenital cranial dysinnervation disorders and has been recognized by high-profile publications, her appointment as a Howard Hughes Medical Institute Investigator, and by receipt of multiple honors. Dr. Engle continues to care for patients, primarily consulting for children and adults with rare eye movement and other cranial nerve disorders. She teaches in both the clinical and laboratory settings, and has served on multiple committees that set the direction for neuroscience and ophthalmology research both locally and nationally.

Publications

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome. View Abstract

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays. View Abstract

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. View Abstract

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays. View Abstract

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. View Abstract

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. View Abstract

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. View Abstract

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. View Abstract

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. View Abstract

The influence of orbital architecture on strabismus in craniosynostosis. View Abstract

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. View Abstract

Inability to move one's face dampens facial expression perception. View Abstract

TUBB3 and KIF21A in neurodevelopment and disease. View Abstract

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. View Abstract

Dual domain recognition determines SARS-CoV-2 PLpro selectivity for human ISG15 and K48-linked di-ubiquitin. View Abstract

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. View Abstract

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. View Abstract

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. View Abstract

Nuclear IMPDH Filaments in Human Gliomas. View Abstract

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. View Abstract

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. View Abstract

A framework for the evaluation of patients with congenital facial weakness. View Abstract

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles. View Abstract

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. View Abstract

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. View Abstract

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. View Abstract

Recurrent Rare Copy Number Variants Increase Risk for Esotropia. View Abstract

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. View Abstract

Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice. View Abstract

Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. View Abstract

Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. View Abstract

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. View Abstract

MAGEL2-related disorders: A study and case series. View Abstract

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. View Abstract

Phenotype delineation of ZNF462 related syndrome. View Abstract

Altered White Matter Organization in the TUBB3 E410K Syndrome. View Abstract

Ex Vivo Oculomotor Slice Culture from Embryonic GFP-Expressing Mice for Time-Lapse Imaging of Oculomotor Nerve Outgrowth. View Abstract

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant. View Abstract

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. View Abstract

Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons. View Abstract

Correction to: 33rd Annual Meeting & Pre-Conference Programs of the Society for Immunotherapy of Cancer (SITC 2018). View Abstract

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. View Abstract

Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. View Abstract

Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. View Abstract

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. View Abstract

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. View Abstract

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. View Abstract

Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. View Abstract

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. View Abstract

Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance. View Abstract

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. View Abstract

Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. View Abstract

Mutant a2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. View Abstract

Biallelic mutations in human DCC cause developmental split-brain syndrome. View Abstract

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. View Abstract

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. View Abstract

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. View Abstract

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. View Abstract

Menkes disease in affected females: the clinical disease spectrum. View Abstract

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. View Abstract

Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. View Abstract

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. View Abstract

Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. View Abstract

RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. View Abstract

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. View Abstract

The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. View Abstract

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. View Abstract

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. View Abstract

A novel syndrome caused by the E410K amino acid substitution in the neuronal ß-tubulin isotype 3. View Abstract

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. View Abstract

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. View Abstract

Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). View Abstract

Human disorders of axon guidance. View Abstract

Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). View Abstract

Crystalline cataract caused by a heterozygous missense mutation in ?D-crystallin (CRYGD). View Abstract

Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? View Abstract

Expansion of the CHN1 strabismus phenotype. View Abstract

Two novel CHN1 mutations in 2 families with Duane retraction syndrome. View Abstract

Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? View Abstract

Recent progress in understanding congenital cranial dysinnervation disorders. View Abstract

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. View Abstract

Allelic diversity in human developmental neurogenetics: insights into biology and disease. View Abstract

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). View Abstract

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. View Abstract

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. View Abstract

Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. View Abstract

Human genetic disorders of axon guidance. View Abstract

HOXA1 mutations are not a common cause of Möbius syndrome. View Abstract

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. View Abstract

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. View Abstract

Synergistic divergence: a distinct ocular motility dysinnervation pattern. View Abstract

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. View Abstract

Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. View Abstract

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. View Abstract

The clinical spectrum of homozygous HOXA1 mutations. View Abstract

Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. View Abstract

Congenital fibrosis of the extraocular muscles. View Abstract

Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. View Abstract

Clinical characterization of the HOXA1 syndrome BSAS variant. View Abstract

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. View Abstract

Oculomotility disorders arising from disruptions in brainstem motor neuron development. View Abstract

Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. View Abstract

Genetic basis of congenital strabismus. View Abstract

Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. View Abstract

Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. View Abstract

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. View Abstract

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. View Abstract

HOXA1 mutations are not a common cause of Duane anomaly. View Abstract

High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. View Abstract

The genetic basis of complex strabismus. View Abstract

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. View Abstract

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. View Abstract

A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. View Abstract

Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. View Abstract

Mutations in KIF21A are responsible for CFEOM1 worldwide. View Abstract

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). View Abstract

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. View Abstract

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). View Abstract

A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). View Abstract

110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. View Abstract

A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. View Abstract

Congenital fibrosis syndrome associated with central nervous system abnormalities. View Abstract

Acute ataxia in childhood. View Abstract

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. View Abstract

Familial unilateral Brown syndrome. View Abstract

Elevation of one eye during tooth brushing. View Abstract

Genes, brainstem development, and eye movements. View Abstract

The molecular basis of the congenital fibrosis syndromes. View Abstract

Applications of molecular genetics to the understanding of congenital ocular motility disorders. View Abstract

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. View Abstract

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. View Abstract

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. View Abstract

Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. View Abstract

Analysis of human sarcospan as a candidate gene for CFEOM1. View Abstract

Congenital fibrosis syndromes. View Abstract

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. View Abstract

Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. View Abstract

CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. View Abstract

A genetic approach to congenital extraocular muscle disorders. View Abstract

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. View Abstract

Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. View Abstract

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. View Abstract

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. View Abstract

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. View Abstract

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. View Abstract

(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. View Abstract

Pre-eruptive varicella cerebellitis confirmed by PCR. View Abstract

Definition, incidence, and clinical description of flare in systemic lupus erythematosus. A prospective cohort study. View Abstract

Differential effects of antibiotics inhibiting gyrase. View Abstract

DNA gyrase on the bacterial chromosome: possibility of two levels of action. View Abstract

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