Karen W Gripp

Summary

Affiliation: Alfred I. duPont Hospital for Children
Country: USA

Publications

  1. ncbi request reprint Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet 108:80-7. 2002
  2. ncbi request reprint Tumor predisposition in Costello syndrome
    Karen W Gripp
    Thomas Jefferson Medical College, Philadelphia, Pennsylvania, USA
    Am J Med Genet C Semin Med Genet 137:72-7. 2005
  3. doi request reprint Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19803, USA
    Am J Med Genet A 161:1058-63. 2013
  4. doi request reprint Keratoconus in Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE, USA
    Am J Med Genet A 161:1132-6. 2013
  5. doi request reprint Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 161:114-9. 2013
  6. doi request reprint Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 158:1095-101. 2012
  7. doi request reprint Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations
    Karen W Gripp
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA
    Genet Med 14:285-92. 2012
  8. ncbi request reprint Somatic mosaicism for an HRAS mutation causes Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet A 140:2163-9. 2006
  9. ncbi request reprint Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children Nemours Childrens Clinic, Wilmington, DE 19899, USA
    Am J Med Genet A 143:1472-80. 2007
  10. doi request reprint Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes
    Karen W Gripp
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 149:868-76. 2009

Detail Information

Publications46

  1. ncbi request reprint Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet 108:80-7. 2002
    ..The diagnosis of Costello syndrome should also be considered in individuals with RMS and physical findings suggestive of Costello syndrome...
  2. ncbi request reprint Tumor predisposition in Costello syndrome
    Karen W Gripp
    Thomas Jefferson Medical College, Philadelphia, Pennsylvania, USA
    Am J Med Genet C Semin Med Genet 137:72-7. 2005
    ..Once a malignancy has been identified, treatment should follow standard protocols. Additional medical problems characteristic for CS, such as hypertrophic cardiomyopathy and arrhythmia, need to be considered and addressed appropriately...
  3. doi request reprint Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19803, USA
    Am J Med Genet A 161:1058-63. 2013
    ..In contrast to the autosomal dominant Hay-Wells syndrome, Bartsocas-Papas syndrome is autosomal recessive, implying a 25% recurrence risk...
  4. doi request reprint Keratoconus in Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE, USA
    Am J Med Genet A 161:1132-6. 2013
    ..Ongoing ophthalmological surveillance may be necessary for adult individuals with Costello syndrome, and apparent vision changes should be evaluated expediently...
  5. doi request reprint Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 161:114-9. 2013
    ..Hip dysplasia in three family members suggests a role for FOXC1 in the femoral head dysplasia of de Hauwere syndrome with 6p25 deletions. Further reports of clinical and molecular diagnoses will clarify genotype-phenotype correlation...
  6. doi request reprint Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 158:1095-101. 2012
    ..None developed papillomata or a malignant tumor. Genetic counseling for Costello syndrome needs to take into consideration the particular HRAS mutation...
  7. doi request reprint Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations
    Karen W Gripp
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA
    Genet Med 14:285-92. 2012
    ....
  8. ncbi request reprint Somatic mosaicism for an HRAS mutation causes Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet A 140:2163-9. 2006
    ..This is the first reported CS patient mosaic for the common HRAS mutation, likely due to a somatic mutation occurring very early in fetal development...
  9. ncbi request reprint Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children Nemours Childrens Clinic, Wilmington, DE 19899, USA
    Am J Med Genet A 143:1472-80. 2007
    ..Based on these clinical differences we suggest that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations...
  10. doi request reprint Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes
    Karen W Gripp
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 149:868-76. 2009
    ..These variable and subtle findings can be identified in patients with MPPH. We propose that MPPH and MCM may not represent distinct entities and that the term MPPH-CM syndrome be used to describe this spectrum...
  11. doi request reprint Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware, USA
    Am J Med Genet A 155:526-33. 2011
    ..We propose diagnostic criteria for MMI/CMZ embryopathy, including the presence of at least one major characteristic finding...
  12. doi request reprint High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 152:1161-8. 2010
    ..In Costello syndrome and macrocephaly-capillary malformation syndrome disproportionate brain growth is the main factor resulting in postnatal CBTH and Chiari 1 malformation...
  13. doi request reprint Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 146:468-73. 2008
    ..We follow two previously reported patients with SD [Patients 3, 4 in Langer et al. 1996; Am J Med Genet 63: 20-27]. Since the original publication, additional findings were identified in these patients...
  14. ncbi request reprint HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 140:1-7. 2006
    ..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete...
  15. doi request reprint Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware, USA
    Am J Med Genet A 155:706-16. 2011
    ..These distinctive ectodermal findings suggest a cell type specific effect of this particular mutation. Additional patients are needed to validate these findings...
  16. ncbi request reprint Elevated catecholamine metabolites in patients with Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, PO Box 269, Wilmington, DE 19899, USA
    Am J Med Genet A 128:48-51. 2004
    ..Thus, it may be prudent not to use this assay as a screening test, and to take the frequently elevated results into consideration when interpreting diagnostic assays...
  17. doi request reprint Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet A 146:683-90. 2008
    ..Thus we add hypertrophic pyloric stenosis to the abnormalities seen with increased frequency in Costello syndrome...
  18. pmc Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 155:2516-20. 2011
    ..Atrial flutter required recurrent ablation of intra-atrial re-entry pathways. The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome...
  19. pmc Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 155:2263-8. 2011
    ..Recurrence risk counseling for families with apparently de novo occurring autosomal dominant conditions includes discussion of germ cell mosaicism, and this report underscores the applicability of this concern to Costello syndrome...
  20. ncbi request reprint Costello syndrome and related disorders
    Emilio Quezada
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Curr Opin Pediatr 19:636-44. 2007
    ..The discovery of gene mutations underlying these and other closely related disorders allows for molecular confirmation of a clinical diagnosis...
  21. pmc Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism
    Katia Sol-Church
    Nemours Biomedical Research, Nemours Children s Clinic, Wilmington, Delaware 19803, USA
    Am J Med Genet A 149:315-21. 2009
    ..Our observation underlines the importance of parental evaluation, and may have implications for genetic counseling and clinical practice...
  22. doi request reprint Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 146:1205-17. 2008
  23. pmc Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 161:2420-30. 2013
    ..The absence of a somatic JAK2 mutation, seen in the majority of patients with myelofibrosis, is noteworthy as it suggests that germline or somatic SHOC2 mutations are causally involved in myelofibrosis...
  24. ncbi request reprint Paternal bias in parental origin of HRAS mutations in Costello syndrome
    Katia Sol-Church
    Department of Biomedical Research, Nemours Children s Clinic, Wilmington, Delaware, USA
    Hum Mutat 27:736-41. 2006
    ..0018), nor with exclusive paternal origin...
  25. ncbi request reprint Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome
    Marni E Axelrad
    Division of Behavioral Health, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet A 128:396-400. 2004
    ..Skills and behavior are compared to existing literature of children with various syndromes...
  26. ncbi request reprint Assessing genotype-phenotype correlation in Costello syndrome using a severity score
    Elizabeth M McCormick
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA
    Genet Med 15:554-7. 2013
    ..Because several different missense mutations have been reported, a severity scoring system was developed to assess a possible genotype-phenotype correlation...
  27. doi request reprint A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware, USA
    Am J Med Genet A 158:2106-18. 2012
    ..While the pathogenicity of the HRAS c.266C>G change remains unproven, our data may illustrate wide functional and phenotypic variability of germline HRAS mutations...
  28. doi request reprint Living with Costello syndrome: quality of life issues in older individuals
    Elizabeth Hopkins
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Nemours Children s Clinic, 1600 Rockland Rd, Wilmington, DE 19803, USA
    Am J Med Genet A 152:84-90. 2010
    ..This information may be useful to the families and health care professionals of adults with Costello syndrome. As a measurable characteristic, QoL may have utility as a metric in future therapeutic trials...
  29. doi request reprint Normative growth charts for individuals with Costello syndrome
    Mary R Sammon
    Division of General Pediatrics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 158:2692-9. 2012
    ..Head circumference curves largely overlap those for average stature, reflecting relative macrocephaly...
  30. ncbi request reprint Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome
    Douglas R Stewart
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 128:340-51. 2004
    ..2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval...
  31. ncbi request reprint Craniosynostosis: another feature of the 22q11.2 deletion syndrome
    Donna M McDonald-McGinn
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 136:358-62. 2005
    ..Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis...
  32. doi request reprint Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies
    Andrew W Walter
    Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania Department of Pediatrics, A I duPont Hospital for Children, Wilmington, Delaware
    Pediatr Blood Cancer 60:E135-6. 2013
    ..Her siblings and parents were screened: three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the mutation...
  33. ncbi request reprint Selective IgM deficiency and 22q11.2 deletion syndrome
    Shiang Ju Kung
    Division of Allergy and Clinical Immunology, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Ann Allergy Asthma Immunol 99:87-92. 2007
    ..Humoral immunity is mostly unaffected, but selective IgA deficiency occurs in up to 13% of patients. Selective IgM deficiency associated with 22q11.2 deletion has been reported in 1 patient...
  34. ncbi request reprint Neuromotor synapses in Escobar syndrome
    Karyn G Robinson
    Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 161:3042-8. 2013
    ....
  35. ncbi request reprint Further delineation of cardiac abnormalities in Costello syndrome
    Angela E Lin
    Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, USA
    Am J Med Genet 111:115-29. 2002
    ..Additional prospective evaluations, even in patients without apparent cardiac abnormalities, would be prudent, although data are insufficient to propose a specific schedule...
  36. ncbi request reprint Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy
    Aleksander Hinek
    Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Canada
    Am J Med Genet A 133:1-12. 2005
    ..We propose that an imbalance in sulfation of chondroitin sulfate molecules and subsequent accumulation of chondroitin-6-sulfate in cardiomyocytes contribute to the development of the hypertrophic cardiomyopathy of Costello syndrome...
  37. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  38. ncbi request reprint Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome
    Mohamad M Al-Rahawan
    Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia
    Am J Med Genet A 143:1481-8. 2007
    ..While CS is associated with increased cancer risk, only a single case of leukemia has been reported in a patient with CFC, making this the first case of a solid tumor reported in a patient with CFC...
  39. doi request reprint The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders
    Bronwyn Kerr
    Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children s Hospitals University NHS Trust, Manchester, UK
    Am J Med Genet A 146:1218-20. 2008
  40. ncbi request reprint Longitudinal assessment of cognitive characteristics in Costello syndrome
    Marni E Axelrad
    Learning Support Center for Child Psychology, Department of Pediatrics, Texas Children s Hospital, Child Psychology, Allied Health Sciences, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 143:3185-93. 2007
    ..However, half of the subjects obtained the lowest possible score on the EVT, demonstrating that this is not the ideal tool for use in this patient population...
  41. ncbi request reprint Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis)
    John B Mulliken
    Craniofacial Center, Division of Plastic Surgery, Children s Hospital Boston, Mass 02215, USA
    Plast Reconstr Surg 113:1899-909. 2004
    ..Infants with either an identified or a suspected mutation usually need bilateral asymmetric advancement of the bandeau and may be more likely to require frontal revision in childhood...
  42. ncbi request reprint Wilms tumor in an 11-year-old with hemihyperplasia
    Amanda Carre
    Am J Med Genet A 139:165-6. 2005
  43. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  44. pmc Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children
    Stephen W Scherer
    Genetics and Genomic Biology Program, Sick Kids Hospital, Toronto, ON, M5G 1X8, Canada
    Hum Genet 117:383-8. 2005
    ....
  45. doi request reprint Clarification of previously reported Costello syndrome patients
    Angela E Lin
    Am J Med Genet A 146:940-3. 2008
  46. ncbi request reprint Genetics of colorectal cancer
    Karen W Gripp
    N Engl J Med 348:2361-2. 2003