• Lehman, Anna


    Investigator, BC Children's Hospital
    Associate Professor, Department of Medical Genetics, University of British Columbia
    Medical Co-Director, British Columbia CAUSES Genome-Wide Sequencing Program
    Clinical Geneticist, BC Children’s and BC Women’s
    Clinical Geneticist, Adult Metabolic Diseases Clinic, Vancouver General Hospital
    Consultant Geneticist, Psychiatric Genetic Counselling Service, BC Mental Health Services
    Consultant Geneticist, British Columbia Inherited Arrhythmia Program, Cardiac Services BC

    Degrees / Designations


    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    604-875-2345 ext. 6785
    Lab Phone
    Mailing Address

    Department of Medical Genetics
    Room C234
    4500 Oak Street
    Vancouver BC V6H 3N1

    Affiliate Websites
    Research Areas
    • Discovery of Mendelian disease genes
    • Clinical characterization of developmental syndromes and metabolic disorders

    I use detailed phenotypic characterization and a range of genome analysis tools to discover pathogenic variants that cause rare developmental and metabolic syndromes. I then carry out follow up experiments to support or rule out candidate genes. With my collaborators, we have discovered genes that cause Adams-Oliver syndrome, hereditary spastic paraplegia, ischiospinal dysostosis, Jeune syndrome, and more. 

    Current Projects

    We are currently searching for the genetic causes of nonsyndromic intellectual disability, novel multiple congenital anomaly syndromes, Adams Oliver syndrome (with my BC Children's Hospital co-investigator Dr. Patel), and neurodegenerative disorders. I study both individual families and cohorts of probands, and I frequently collaborate with larger initiatives (eg., FORGE Canada, Care4Rare, DECIPHER, UK 100,000 Genomes).  I also work to identify disease genes in individuals with chromosomal imbalances or structural alterations that are associated with unusual developmental or medical disorders. I see this work as the second part of the Human Genome Project: determination of those genetic variants responsible for human diseases.  

    Selected Publications

    Bagheri H, Badduke C, Qiao Y, Colnaghi R, Abramowitz I, Alcantara D, Dunham C, Wen J, Wildin R, Nowaczyk MJM,  Eichmeyer J,  Lehman A, Maranda B, Martell S, Shan X, Aradhya S, Lewis MES, O'Driscoll M, Gregory-Evans CY and Rajcan-Separovic E. Identifying candidate genes for 2p15-16.1 microdeletion syndrome using clinical, genomic and functional analysis. Accepted and in press at Journal of Clinical Investigation Insight

    Zong Z, * Tees S, Miyanji F, Fauth C, Reilly C, Lopez E, Tredwell S, Goldberg YP, Delaney A, Eydoux P, Van Allen M, Lehman A. BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis. 2015. Journal of Human Genetics60, 743-747. PMID: 26467725

    Meester JAN, Southgate L, Stittrich AB, Venselaar H, Beekmans S, den Hollander N, Bijlsma E, Helderman P, Verheij J, Glusman G, Roach JC, Lehman A, Patel MS, de Vries B, Ruivenkamp C, Itin P, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W. Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver Syndrome. 2015.The American Journal of Human Genetics 97: 475-482. PMID: 26299364

    Payandeh J,* McGillivray B, McCauley G, Wilcox P, Swiston JR, Lehman A. A clinical classification scheme for tracheobronchomegaly (Mounier-Kuhn syndrome). 2015. Lung. Vol 193, Issue 5: 815-822. PMID: 26189148 

    Maloney G, Lehman AM, Shojania K, Ross M, McCarthy M. Corneal findings in Parry Romberg syndrome. 2014. Canadian Journal of Ophthalmology. 49(1), Pages e2–e5. PMID: 24513374

    Stittrich AB, ‡ Lehman A, ‡ Bodian DL, ‡ Ashworth J, Zong Z, * Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Santos Silva E, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Mutations in NOTCH1 cause Adams-Oliver syndrome. 2014. American Journal of Human Genetics. 95(3):275-84.Co-first authors with equal contribution. PMID: 25132448

    Lehman AM, Stittrich AB, Glusman G, Zong Z*, Senger C, Lyons C, Eydoux P, Li H, Roach J, Patel M. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.  Am J Med Genet 2014 Oct;164A(10):2656-62.  PMID: 25091416

    Burnell L*, Verchere C, Pugash D, Loock C, Robertson S, Lehman A.  Additional postnatal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate.  Arch Dis Child Fetal Neonatal Ed. 2014 Jul;99(4):F286-90. PMID: 24625434

    Lehman AM, Cowan J, McFadden D, Patel M.  Anterolateral Diaphragmatic Hernia with Body Wall Defect Understood in Relation to the Abaxial Domain. Am J Med Genet. 2014 Jul;164A(7):1860-2. doi: 10.1002/ajmg.a.36529.  PMID: 24625434  

    Pugash D, Lehman A, Langlois S. Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia. Ultrasound Obstet Gynecol. Sept 2014; 44(3): 365-368. PMID: 24616001

    van Karnebeek CDM, Salvarinova R, Shyr C, Horvath GA, Bernard V, Newlove T, Ukpeh H, Vallance HD, Eydoux P, Lehman AM, Bhavsaar AP, Nguyen H, Coulter-Mackie M, Ross CJ, Sinclair G, Waheed A, Sly WS, Wasserman WW, Stockler S. Mitochondrial carbonic anhydrase VA deficiency due to CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet. 2014 Mar 6;94(3):453-61. 

    Lehman AM, Dong C, Harries A, Patel A, Honey CR, Patel MS. Evidence of ancillary trigeminal innervation of levator palpebrae in the general population. J Clin Neurosci. 2014 Feb;21(2):301-4. 

    Harlalka GV ‡,  Lehman A ‡, Nair A, Priestman D, Al-Turki S, Chioza B, Bastaki L, Patton M, Joy Price, Platt F, Hurles M, Crosby, AH. Mutations in beta-1, 4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1, GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270.  ‡Co-first authors with equal contribution.

    Sirrs SM, Lehman A, Stockler S and van Karnebeek CDM. Treatable inborn errors of metabolism causing neurological symptoms in adults. Molecular Genetics and Metabolism. Volume 110, Issue 4, December 2013, Pages 431–438.

    Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013 Nov 7;93(5):915-25. 

    Pugash D, Schrader KA, Dunham CP, Popescu O, Sargent MA, Lehman AM, Yong SL, Clarke LA. Fetal Progeria: Prenatal sonographic findings in Petty syndrome. J Ultrasound Med. 2013 May;32(5):881-3. 

    Verma P, Gelinas J, Lehman A, Stockler S, Sirrs S. Krabbe Disease – A Potentially Treatable White Matter Disorder. Neurology. 2012 Nov 6;79(19):170-2.

    Lehman A, Mattman A, Sin D, Pare P, Zong Z*, d’Azzo A, Campos I, Sirrs S, Hinek A. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. Molecular Genetics and Metabolism. 2012; 106(1):99-103.

    Lehman A, du Souich C, Chai D, Eydoux P, Huang J, Fok A, Avila L, Swingland J, Delaney A, McGillivray B, Goldowitz D, Argiropoulos B, Kobor M, Boerkoel C. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. Clin Genet. 2012; 81(1):56–63.

    Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BYH, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet. 2010; 152A:1411–1419. 

    Lehman AM, Schultz KR, Poskitt K, Bjornson B, Keyes R, Waters PJ, Clarke LA, Everett R, McConnell D, Stockler S. Intracranial calcification after cord blood neonatal transplantation for Krabbe disease. Neuropediatrics. 2009; 40(4):189-91.

    Shrimpton AE, Hoopes RR, Jr., Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ. OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron Physiol. 2009;112(2):p27-36.

    Lehman AM, Patel MS. Childhood-onset hemiatrophy caused by unilateral morphea. Clin Dysmorphol. 2009; 18(4):213-4.

    Lehman AM, Friedman JM, Chai D, Zahir FR, Marra MA, Prisman L, Tsang E, Eydoux P, Armstrong L. A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur J Med Genet. 2009; 52(6):436-9.

    Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. Am J Med Genet. 2008; 146A(10):1299-306.

    Christensen MA, Zhou W, Qing H, Lehman A, Philipsen S, Song W. Transcriptional regulation of BACE1, the beta-amyloid precursor protein beta-secretase, by Sp1. Mol Cell Biol. 2004 Jan;24(2):865-74.

    Honours & Awards

    2009 - David W. Smith Award for Outstanding Presentation by a Resident or Fellow

    2009 - Rising Researcher Support Award, Canadian Child Health Clinician Scientist Program

    2003 - Naranjan Singh Sidhoo Memorial Scholarship for medical academic achievement

    2002 - American Academy of Neurology Student Fellowship

    2002 - Canadian Institute of Health Research Student Summer Research Fellowship

    2001 - Hannah Institute of the History of Medicine Studentship

    1999 - British Columbia Health Research Foundation Fellowship

    Research Group Members

    I am currently supervising the research of:

    • Ms. Nicole Forrester (MSc Candidate) 
    • Dr. Adeline Jacquinet (Research and Clinical Fellow) 
    • Dr. Katherine Blood (Resident) 
    • Dr. Karen Niederhoffer (Resident) 
    • Ms. Rebecca Shaw (Undergraduate)
    • Ms. Jennifer Payandeh (Undergraduate)