Department of Pediatrics

Wash U School of Medicine

Dorothy Katherine Grange, M.D.  grangedk@wustl.edu

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Professor of Pediatrics, Division of Genetics and Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093

Education

  • BA, Cum Laude, Mount Holyoke College, 1980
  • MD, University of Florida College of Medicine, 1982

Training

  • Pathology Intern, University of Florida, 1981 - 1982
  • Pediatric Intern and Resident, University of Wisconsin, 1982 - 1985
  • Pathology Resident, University of Wisconsin, 1985 - 1986
  • Medical Genetics Fellowship Program, National Institutes of Health, 1986 - 1989

Licensure and Board Certification

  • 1981 - 1986WI
  • 1982 - PresNational Board of Medical Examiners
  • 1986 - 1989MD
  • 1987 - PresAmerican Academy of Pediatrics
  • 1989 - 2023MO
  • 1990 - PresClinical Genetics, American Board of Medical Genetics
  • 2002 - 2023IL
  • 2009 - PresMedical Biochemical Genetics, American Board of Medical Genetics

Honors and Awards

  • Dean Mitchell Baker Medical Student Award for Pediatric Cardiology, 1981
  • Outstanding Teacher Award - Subspecialty, Department of Pediatrics, Washington University School of Medicine, 2008 - 2009
  • Distinguished Clinician Award, Washington University School of Medicine, 2015
  • Shining Star Award from the Down Syndrome Association of Greater St Louis, 2016

Recent Publications view all (140)

Publication Co-Authors

Washington University has a long tradition of collaboration amongst colleagues.The faculty above have co-authored publications with Dorothy Katherine Grange, M.D.
  1. Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia. Front Pediatr. 2021. doi:10.3389/fped.2021.732354  PMID:34805036 
  2. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease Hum Mol Genet. 2021. doi:10.1093/hmg/ddab257  PMID:34508595 
  3. Behavioral and cognitive functioning in individuals with Cantú syndrome Am J Med Genet A. 2021. doi:10.1002/ajmg.a.62348  PMID:34056838  
  4. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Genet Med. 2021. doi:10.1038/s41436-021-01152-7  PMID:33833410  
  5. Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. CEN Case Rep.. 2021. doi:10.1007/s13730-021-00572-3  PMID:33502714  
  6. Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome JCI Insight. 2020;5(23):e141443. doi:10.1172/jci.insight.141443  PMID:33170808  
  7. Cantú Syndrome GeneReviews. 2020. PMID:25275207 
  8. Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report JIMD Reports. 2020. doi:10.1002/jmd2.12165  
  9. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Am J Med Genet A. 2020;107(3):499-513. doi:10.1016/j.ajhg.2020.06.018  PMID:32721402 
  10. Siblings with a novel MED12 variant and Odho syndrome with immune defects Clin Genet. 2020;98(3):308-310. doi:10.1111/cge.13806  PMID:32721402 
  11. Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up Mol Genet Metab. 2020;130(4):239-246. doi:10.1016/j.ymgme.2020.06.006  PMID:32593547 
  12. Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects Br J Clin Pharmacol. 2020;86(10):2063-2069. doi:10.1111/bcp.14301  PMID:32250462 
  13. Three-dimensional facial morphology in Cantu syndrome Am J Med Genet A. 2020;182(5):1041-1052. PMID:32100467 
  14. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome Am J Med Genet A. 2020;182(5):1053-1065. doi:10.1002/ajmg.a.61518  PMID:32083401 
  15. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature Eur J Hum Genet. 2020;28(6):770-782. doi:10.1038/s41431-020-0571-6  PMID:32005960 
  16. Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants Int J Neonatal Screen. 2020;6(1):4. doi:10.3390/ijns6010004  PMID:33073003 
  17. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations Am J Med Genet A. 2019;106(1):121-128. doi:10.1016/j.ajhg.2019.12.004  PMID:31883643 
  18. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry Am J Med Genet C Semin Med Genet. 2019;181(4):658-681. doi:10.1002/ajmg.c.31753  PMID:31828977 
  19. Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants Pediatr Dev Path. 2019;23(3):235-239. doi:10.1177/1093526619881541  PMID:316355528 
  20. Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience. J Pediatr. 2019;S0022-3476(19):30961-30968. doi:10.1016/j.jpeds.2019.07.053  PMID:31477379 
  21. White and gray matter brain development in children and young adults with phenylketonuria. Neuroimage Clin. 2019;23:101916. doi:10.1016/j.nicl.2019.101916  
  22. Mutation update for the SATB2 gene Hum Mutat. 2019;40(8):1013-1029. doi:10.1002/humu.23771  PMID:31021519 
  23. Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience. Am J Med Genet A. 2019;179(8):1585-1590. doi:10.1002/ajmg.a.61200  PMID:31175705 
  24. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype. Hum Genet. 2019. doi:10.1007/s00439-019-02011-x  PMID:30963242  
  25. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet.. 2019. doi:10.1038/s41431-019-0366-9  PMID:30778173 
  26. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019. doi:10.1038/s41436-019-0454-9  PMID:30739909  
  27. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. . 2019;104(2):213-228. doi:10.1016/j.ajhg.2018.12.010  PMID:30639323 
  28. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet.. 2018;103(6):968-975. doi:10.1016/j.ajhg.2018.10.010  PMID:30414627 
  29. Dichotomous roles of TBX3 in the establishment of atrioventricular conduction pathways in the human heart. Heart Rhythm Case Rep.. 2018;5(2):109-111. doi:10.1016/j.hrcr.2018.11.005  PMID:30820409  
  30. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Mol Genet Metab. 2018. doi:org/10.1016/j.ymgme.2018.07.014  
  31. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature Eur J Hum Genet. 2018. doi:10.1038/s41431-018-0187-2  PMID:29904177 
  32. Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial Mol Genet Metab. 2018;124(1):20-26. doi:10.1016/j.ymgme.2018.03.003  PMID:29628378 
  33. Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria Dev Neuropsychol. 2018;43(3):207-218. doi:10.1080/87565641.2018.1438439  PMID:29432026 
  34. Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms J Biol Chem. 2018;293(6):2041-2052. doi:10.1074/jbc.RA117.000351  PMID:29275331 
  35. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Am J Hum Genet. 2017;101(5):768-788. doi:10.1016/j.ajhg.2017.10.003  PMID:29100089 
  36. Automatic recognition of the XLHED phenotype from facial images. Am J Med Genet A. 2017;173(9):2408-2414. doi:10.1002/ajmg.a.38343  PMID:28691769 
  37. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017;9(1):73. doi: doi: 10.1186/s13073-017-0463-8  PMID:28807008  
  38. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum Mutat. 2017;38(11):1477-1484. doi:10.1002/humu.23297  PMID:28726266 
  39. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. J Pediatr. 2017;pii: S0022-3476(17):30898-3. doi:10.1016/j.jpeds.2017.06.048  PMID:28728811 
  40. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results Genet Med. 2017;19(9):1040-1048. doi:doi.org/10.1038/gim.2016.224  PMCID:PMC5581723  PMID:28252636 
  41. Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria. Mol Genet Metab Rep. 2017;12:8-13. doi:10.1016/j.ymgmr.2017.01.013  PMID:28271047 
  42. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis Sci Rep. 2017;7:41803. doi:10.1038/srep41803.  PMID:28205584  
  43. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017;38(5):600-608. doi:10.1002/humu.23183  PMID:28106320 
  44. Clinical utility gene card for: Cantú syndrome. Eur J Hum Genet. 2017;25(4). doi:10.1038/ejhg.2016.185  PMID:28051078 
  45. Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria. JIMD Rep. 2017;33:41-47. PMCID:PMC5413446  PMID:27450369 
  46. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. Am J Hum Genet. 2016;100(1):21-30. doi:10.1016/j.ajhg.2016.11.008  PMID:27939641 
  47. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry. 2016. PMID:27550844 
  48. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations Am J Med Genet. 2016. doi:10.1002/ajmg.a.37849  PMID:27427475 
  49. Neurologic and neuroimaging manifestations of Cantú syndrome: A case series Neurology. 2016. doi:10.1212/WNL.0000000000002861  PMID:27316244  
  50. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum Clin Genet. 2016. doi:10.1111/cge.12819  PMID:27307077 
  51. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016;98(6):1256-65. doi:10.1016/j.ajhg.2016.04.007  PMID:27236920 
  52. KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome. Proc Natl Acad Sci U S A. 2016. doi:10.1073/pnas.1606465113  PMID:27247394 
  53. Clinical and radiographic delineation of bent bone dysplasia-FGFR2 type or bent bone dysplasia with distinctive clavicles and angel-shaped phalanges. Am J Med Genet A. 2016. doi:10.1002/ajmg.a.37772  PMID:27240702 
  54. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet. 2016;98(5):909-18. doi:10.1016/j.ajhg.2016.03.014  PMID:27132593 
  55. Relationship between age and white matter integrity in children with phenylketonuria Mol Genet Metab Rep. 2016;7:45-9. doi:10.1016/j.ymgmr.2016.03.003  PMID:27114916 
  56. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Am J Med Genet A. 2016;170(3):583-93. doi:10.1002/ajmg.a.37445  PMID:26601658&nbs