Dorothy Katherine Grange, M.D.  grange_d@kids.wustl.edu

Professor of Pediatrics, Division of Genetics and Genomic Medicine
Genetics and Genomic MedicinePatient Oriented Research Unit

phone: (314) 454-6093

Education

  • BA, Cum Laude, Mount Holyoke College1980
  • MD, University of Florida College of Medicine1982

Training

  • Intern, University of Florida1981 - 1982
  • Intern and Resident, University of Wisconsin1982 - 1985
  • Resident, University of Wisconsin1985 - 1986
  • Fellowship Program, National Institutes of Health1986 - 1989

Licensure and Board Certification

  • WI, 1981
  • National Board of Medical Examiners 1982
  • MD, 1986
  • American Academy of Pediatrics 1987
  • MO, 1989
  • Clinical Genetics, American Board of Medical Genetics 1990
  • IL, 2002
  • Medical Biochemical Genetics, American Board of Medical Genetics 2009

Honors

  • Dean Mitchell Baker Medical Student Award for Pediatric Cardiology1981
  • Outstanding Teacher Award - Subspecialty, Department of Pediatrics, Washington University School of Medicine2008 - 2009
  • Distinguished Clinician Award, Washington University School of Medicine2015

Recent Publications view all (96)


  1. 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 
  2. Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria JIMD Rep. 2016. doi:10.1007/8904_2016_579  PMID:27450369 
  3. 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 
  4. Neurologic and neuroimaging manifestations of Cantú syndrome: A case series Neurology. 2016. doi:10.1212/WNL.0000000000002861  PMID:27316244  
  5. 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 
  6. 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 
  7. 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 
  8. 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 
  9. 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 
  10. 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 
  11. 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 
  12. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet. 2016;172(1):44-51. doi:10.1002/ajmg.c.31472  PMID:26858134 
  13. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. Am J Med Genet A. 2015;167(12):2893-901. doi:10.1002/ajmg.a.37273  PMID:26420300 
  14. Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome. Heart Rhythm. 2015. doi:10.1016/j.hrthm.2015.06.042  PMID:26142302 
  15. Fabry disease in infancy and early childhood: a systematic literature review Genet Med. 2015;17(5):323-30. PMID: 25232851  
  16. Brainstem disconnection: two additional patients and expansion of the phenotype. Neuropediatrics. 2015;46(2):139-44. doi:10.1055/s-0034-1544127  PMID:25671339 
  17. Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria. Mol Genet Metab. 2015;114(1):19-24. doi:10.1016/j.ymgme.2014.11.007  PMCID:PMC4277899  PMID:25481106 
  18. Overnight pulse oximetry for evaluation of sleep apnea among children with trisomy 21. J Clin Sleep Med. 2014;10(12):1309-15. doi:10.5664/jcsm.4286  PMCID:PMC4237524  PMID:25325597 
  19. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. Mol Genet Genomic Med. 2014;2(5):422-9. doi:10.1002/mgg3.84  PMCID:PMC4190877  PMID:25333067 
  20. Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders. Pediatr Neurol. 2014;51(3):448-52. doi:10.1016/j.pediatrneurol.2014.04.006  PMID:25160553 
  21. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Hum Mol Genet. 2014. doi:10.1093/hmg/ddu224  PMID:24833718 
  22. Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet A. 2014;164(5):1118-26. doi:10.1002/ajmg.a.36401  PMID:24458548 
  23. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. J Med Genet. 2014. doi:10.1136/jmedgenet-2013-102249  PMID:24744436 
  24. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin Genet. 2014. doi:10.1111/cge.12407  PMID:24738973 
  25. Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial. Lancet. 2014. doi:10.1016/S0140-6736(13)61841-3  PMID:24743000 
  26. Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum Mutat. 2014. doi:10.1002/humu.22555  PMID:24700710 
  27. Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. Mol Genet Metab. 2014;111(4):445-51. doi:10.1016/j.ymgme.2014.01.012  PMID:24568837 
  28. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. Mol Genet Metab. 2014. doi:10.1016/j.ymgme.2014.02.016  PMID:24667082 
  29. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014. doi:10.1007/s00439-014-1436-2  PMID:24615390 
  30. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014. doi:10.1016/j.ymgme.2014.02.013  PMID:24667081 
  31. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014;2(2):115-23. doi:10.1002/mgg3.48  PMCID:PMC3960053  PMID:24689074 
  32. Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013;161A(12):2953-63. doi:10.1002/ajmg.a.35886  PMID:24123848 
  33. White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol Genet Metab. 2013;110(3):213-7. doi:10.1016/j.ymgme.2013.07.010  PMCID:PMC3832288  PMID:23928118 
  34. Index of Suspicion in the Nursery. Case 1: Neural Tube Defect in Infant of Epileptic Mother Neoreviews. 2013;14(8):e412-e415. 
  35. White matter integrity and executive abilities in individuals with phenylketonuria. Mol Genet Metab. 2013;109(2):125-31. doi:10.1016/j.ymgme.2013.03.020  PMCID:PMC3678378  PMID:23608077 
  36. Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. Dev Neuropsychol. 2013;38(3):139-52. doi:10.1080/87565641.2012.718816  PMID:23573793 
  37. KATP channels and cardiovascular disease: suddenly a syndrome. Circ Res. 2013;112(7):1059-72. doi:10.1161/CIRCRESAHA.112.300514  PMID:23538276 
  38. Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013;92(1):150-6. doi:10.1016/j.ajhg.2012.11.014  PMCID:PMC3542461  PMID:23261301 
  39. Processing speed and executive abilities in children with phenylketonuria. Neuropsychology. 2012;26(6):735-43. doi:10.1037/a0029419  PMCID:PMC3526340  PMID:22866986 
  40. Mild fumarase deficiency and a trial of low protein diet. Mol Genet Metab. 2012;107(1-2):241-2. doi:10.1016/j.ymgme.2012.04.010  PMID:22595425 
  41. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012;90(6):1094-101. doi:10.1016/j.ajhg.2012.04.014  PMCID:PMC3370286  PMID:22608503 
  42. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012;33(1):165-79. doi:10.1002/humu.21614  PMID:21948486 
  43. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. Eur J Med Genet. 2012;55(8-9):485-9. doi:10.1016/j.ejmg.2012.04.003  PMID:22579565 
  44. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011;48(12):840-50. doi:10.1136/jmedgenet-2011-100125  PMID:21984752 
  45. Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned. J Community Genet. 2011;2(4):191-200. doi:10.1007/s12687-011-0055-z  PMCID:PMC3215786  PMID:22109872 
  46. Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay. Am J Med Genet A. 2011;155A(10):2589-92. doi:10.1002/ajmg.a.34185  PMID:21910221 
  47. Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study. Mol Genet Metab. 2011;103(4):315-22. doi:10.1016/j.ymgme.2011.03.020  PMID:21646032 
  48. Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. J Pediatr. 2011;158(3):410-5. doi:10.1016/j.jpeds.2010.08.016  PMID:20884009 
  49. Executive strategic processing during verbal fluency performance in children with phenylketonuria. Child Neuropsychol. 2011;17(2):105-17. doi:10.1080/09297049.2010.525502  PMCID:PMC3058256  PMID:21140312 
  50. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010;330(6002):336. doi:10.1126/science.1192632  PMID:20847235 
  51. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A(10):2437-43. doi:10.1002/ajmg.a.33657  PMCID:PMC3573757  PMID:20734336 
  52. Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. J Mol Diagn. 2010;12(5):576-88. doi:10.2353/jmoldx.2010.100005  PMCID:PMC2928421  PMID:20616360 
  53. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010;47(3):155-61. doi:10.1136/jmg.2009.070573  PMID:19833603 
  54. Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women. J Am Coll Cardiol. 2010;55(4):408-10. doi:10.1016/j.jacc.2009.11.019  PMID:20117447 
  55. TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. Mol Syndromol. 2010;1(5):211-222. doi:10.1159/000328203  PMCID:PMC3214944  PMID:22125506 
  56. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol Genet Metab. 2010;99 Suppl 1:S41-6. doi:10.1016/j.ymgme.2009.09.016  PMID:20123469 
  57. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer. 2009;53(6):1147-9. doi:10.1002/pbc.22193  PMID:19621452 
  58. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr. 2009;154(5):700-7. doi:10.1016/j.jpeds.2008.11.040  PMID:19261295 
  59. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46(5):308-14. doi:10.1136/jmg.2008.063149  PMID:19188198 
  60. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol. 2009;129(3):553-63. doi:10.1038/jid.2008.271  PMCID:PMC2900916  PMID:18800149 
  61. Response monitoring in children with phenylketonuria. Neuropsychology. 2009;23(1):130-4. doi:10.1037/a0013488  PMID:19210041 
  62. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466-71. doi:10.1038/ng.279  PMCID:PMC2680128  PMID:19029900 
  63. Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. Am J Med Genet A. 2008;146A(20):2589-97. doi:10.1002/ajmg.a.32503  PMID:18798318 
  64. Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. Clin Orthop Relat Res. 2008;466(6):1503-9. doi:10.1007/s11999-008-0196-5  PMCID:PMC2384041  PMID:18322662 
  65. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet. 2007;72(5):411-9. doi:10.1111/j.1399-0004.2007.00896.x  PMID:17916097 
  66. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis. 2007;30(5):700-7. doi:10.1007/s10545-007-0605-z  PMID:17846916 
  67. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat. 2007;28(9):882-9. doi:10.1002/humu.20536  PMID:17469202 
  68. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am J Med Genet A. 2006;140(15):1673-80. doi:10.1002/ajmg.a.31348  PMID:16835932 
  69. New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Am J Med Genet A. 2006;140(12):1257-63. doi:10.1002/ajmg.a.31265  PMID:16691589 
  70. Inhibitory control in children with phenylketonuria. Dev Neuropsychol. 2006;30(3):845-64. doi:10.1207/s15326942dn3003_5  PMID:17083296 
  71. Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease. Am J Med Genet A. 2005;139A(2):151-5. doi:10.1002/ajmg.a.31001  PMID:16278898 
  72. Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype. Am J Med Genet A. 2005;137A(3):308-12. doi:10.1002/ajmg.a.30877  PMID:16092120 
  73. A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet. 2005;14(15):2181-8. doi:10.1093/hmg/ddi222  PMID:15994174 
  74. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. J Perinatol. 2005;25(7):491-4. doi:10.1038/sj.jp.7211335  PMID:15908988 
  75. LIT1 and H19 methylation defects in isolated hemihyperplasia. Am J Med Genet A. 2005;134A(2):129-31. doi:10.1002/ajmg.a.30578  PMID:15651076 
  76. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005;76(4):609-22. doi:10.1086/429346  PMCID:PMC1199298  PMID:15739154 
  77. Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration. Pediatr Crit Care Med. 2004;5(3):278-81. PMID:15115568 
  78. Case report: lethal multiple pterygium syndrome. Pediatr Pathol Mol Med. 2003;22(6):461-70. PMID:14578039 
  79. Intracranial infantile myofibromatosis with intraparenchymal involvement. Pediatr Neurosurg. 2002;36(4):214-7. doi:56059  PMID:12006757 
  80. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001;68(6):1321-6. doi:10.1086/320612  PMCID:PMC1226118  PMID:11326338 
  81. Two unbalanced translocations involving a common 6p25 region in two XY female patients. Clin Genet. 2001;59(1):52-7. PMID:11168026 
  82. Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet. 2000;90(5):407-22. PMID:10706363 
  83. Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting. Am J Med Genet. 2000;90(4):276-82. PMID:10710223 
  84. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet. 2000;90(4):328-35. PMID:10710233 
  85. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. Mol Genet Metab. 1999;67(1):74-82. doi:10.1006/mgme.1999.2824  PMID:10329027 
  86. Bone marrow transplantation for the treatment of alpha-mannosidosis. J Pediatr. 1998;133(2):282-5. PMID:9709723 
  87. Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. Am J Med Genet. 1998;75(5):469-80. PMID:9489789 
  88. Nutritional vitamin B12 deficiency in a breastfed infant following maternal gastric bypass. Pediatr Hematol Oncol. 1994;11(3):311-8. PMID:8060815 
  89. Developmental abnormalities resulting in short umbilical cord. Birth Defects Orig Artic Ser. 1993;29(1):113-40. PMID:8280869 
  90. Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids. Nucleic Acids Res. 1990;18(14):4227-36. PMCID:PMC331183  PMID:1696002 
  91. Analysis of cultured chorionic villi in a case of osteogenesis imperfecta type II: implications for prenatal diagnosis. Am J Med Genet. 1990;36(2):258-64. doi:10.1002/ajmg.1320360223  PMID:2368816 
  92. Rehabilitation of children and infants with osteogenesis imperfecta. A program for ambulation. Clin Orthop Relat Res. 1990;(251):254-62. PMID:2295183 
  93. Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. J Biol Chem. 1989;264(20):11893-900. PMID:2745420 
  94. The short umbilical cord. Birth Defects Orig Artic Ser. 1987;23(1):191-214. PMID:3580549 
  95. Studies on the biosynthesis of dolichyl phosphate: evidence for the in vitro formation of 2,3-dehydrodolichyl phosphate. Biochem Biophys Res Commun. 1977;79(3):734-40. PMID:597303 
  96. Loss-of-function Mutations in YY1AP1 Lead to Grange Syndrome and Fibromuscular Dysplasia-Like Vascular Disease American Journal of Human Genetics. 
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