Ian Krantz

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. ncbi Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
    Cheryl Descipio
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 134:3-11. 2005
  2. ncbi Novel microdeletion syndromes
    Ian D Krantz
    Division of Human Genetics, 1007 C, Abramson Research Center, The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Am J Med Genet C Semin Med Genet 145:323-6. 2007
  3. pmc HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
    Matthew A Deardorff
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Nature 489:313-7. 2012
  4. ncbi Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome
    I D Krantz
    Division of Human Genetics and Molecular Biology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 101:120-9. 2001
  5. ncbi Alagille syndrome: chipping away at the tip of the iceberg
    Ian D Krantz
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:160-2. 2002
  6. ncbi Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
    Ian D Krantz
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 36:631-5. 2004
  7. pmc SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
    Binita M Kamath
    Division of Gastroenterology and Nutrition, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 30:371-8. 2009
  8. ncbi Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
    Doff B McElhinney
    Division of Cardiology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104 4318, USA
    Circulation 106:2567-74. 2002
  9. ncbi Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion
    Ayala Laufer-Cahana
    Division of Human Genetics and Molecular Biology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:190-3. 2002
  10. pmc Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features
    Henry C Lin
    Division of Gastroenterology, Hepatology, and Nutrition, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:1005-13. 2012

Collaborators

Detail Information

Publications42

  1. ncbi Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
    Cheryl Descipio
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 134:3-11. 2005
    ..Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified...
  2. ncbi Novel microdeletion syndromes
    Ian D Krantz
    Division of Human Genetics, 1007 C, Abramson Research Center, The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Am J Med Genet C Semin Med Genet 145:323-6. 2007
  3. pmc HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
    Matthew A Deardorff
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Nature 489:313-7. 2012
    ....
  4. ncbi Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome
    I D Krantz
    Division of Human Genetics and Molecular Biology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 101:120-9. 2001
    ..These studies indicate that in some multicase families, the disease gene does not map to the CDL1 region at 3q26.3...
  5. ncbi Alagille syndrome: chipping away at the tip of the iceberg
    Ian D Krantz
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:160-2. 2002
  6. ncbi Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
    Ian D Krantz
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 36:631-5. 2004
    ..The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster...
  7. pmc SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
    Binita M Kamath
    Division of Gastroenterology and Nutrition, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 30:371-8. 2009
    ..Deletions of the short arm of chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high-resolution definition of genomic abnormalities...
  8. ncbi Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
    Doff B McElhinney
    Division of Cardiology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104 4318, USA
    Circulation 106:2567-74. 2002
    ....
  9. ncbi Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion
    Ayala Laufer-Cahana
    Division of Human Genetics and Molecular Biology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:190-3. 2002
    ..This is the first report of a JAG1 deletion inherited from an apparently unaffected mosaic parent...
  10. pmc Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features
    Henry C Lin
    Division of Gastroenterology, Hepatology, and Nutrition, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:1005-13. 2012
    ..This is the first report of mutations and phenotypic spectrum of ALGS in a Vietnamese population...
  11. ncbi Parental narratives of genetic testing for hearing loss: audiologic implications for clinical work with children and families
    Annie Steinberg
    The Children s Hospital of Philadelphia, PA, USA
    Am J Audiol 16:57-67. 2007
    ..This article addresses the audiologist's important role in the genetic testing referral and follow-up processes...
  12. ncbi Parental narratives on genetic testing for children with hearing loss: a qualitative inquiry
    Annie G Steinberg
    Deafness and Family Communication Center, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 143:1533-45. 2007
    ..Listening attentively to parental narratives can help minimize prevailing misconceptions among parents and enable appropriate medical care and education...
  13. pmc NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
    Lynette A Gillis
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    Am J Hum Genet 75:610-23. 2004
    ..Analysis also suggested a trend toward a milder phenotype in individuals with missense mutations than in those with other types of mutations...
  14. ncbi Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Circulation 109:1354-8. 2004
    ..There are multiple case reports of intracranial vessel abnormalities and other vascular anomalies in AGS. The objective of this study was to characterize the nature and spectrum of vascular anomalies in AGS...
  15. ncbi Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:171-5. 2002
    ..The identification of supernumerary digital creases in one-third of AGS probands provides another diagnostic aid and allows for speculation of the role of Jagged1 in the molecular development of digital crease patterns...
  16. ncbi Craniosynostosis in Alagille syndrome
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:176-80. 2002
    ..The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in Jagged1 may indicate that Jagged1 plays a role in cranial suture formation...
  17. ncbi Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:194-7. 2002
    ..This case implies that genotypic variations alone do not explain the clinical variability seen in Alagille syndrome and supports the contributory role of nongenetic factors in phenotype determination...
  18. pmc Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis
    Robert C Bauer
    Department of Pediatrics, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Hum Mutat 31:594-601. 2010
    ..Patients with right-sided cardiac defects should be carefully screened for features of AGS or a family history of cardiac defects that might suggest the presence of a JAG1 mutation...
  19. pmc Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome
    Maninder Kaur
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 138:27-31. 2005
    ..These studies indicate that NIPBL may play a role in sister chromatid cohesion in humans as has been reported for its homologs in Drosophila and yeast...
  20. doi Immunologic features of Cornelia de Lange syndrome
    Soma Jyonouchi
    Division of Allergy and Immunology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Pediatrics 132:e484-9. 2013
    ..The goals of our study were to identify the frequency and types of infections in CdLS and to determine if underlying immunodeficiency contributes to the clinical spectrum of this syndrome...
  21. pmc Transcriptional dysregulation in NIPBL and cohesin mutant human cells
    Jinglan Liu
    Division of Human Genetics, Abramson Research Institute, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS Biol 7:e1000119. 2009
    ..However, the binding sites are enriched within the promoter regions of the dysregulated genes and are significantly decreased in CdLS proband, indicating an alternative role of cohesin as a transcription factor...
  22. pmc Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20
    Cheryl Descipio
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 152:373-82. 2010
    ..7 Mb from the qter, by TEL array; SNP array data refine this breakpoint to within a gap between BACs on the TEL array (i.e., between RP11-93B14 and proximal BAC RP11-765G16)...
  23. pmc Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3
    Melissa Leyva-Vega
    Division of Gastroenterology, Hepatology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 152:886-95. 2010
    ..The overlapping 1.76 Mb deletion on chromosome 2q37.3 from 240,936,900 to 242,692,820 constitutes the critical region and the genes within this region could be candidates for susceptibility to BA...
  24. pmc Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome
    Mariko Nakanishi
    Division of Child Development, Rehabilitation, and Metabolic Disease, The Children s Hospital of Philadelphia, and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:1841-7. 2012
    ..Clinicians who take care of individuals with CdLS should have a high index of suspicion for autistic features, and refer for further evaluation when these features are present in order to expedite appropriate intervention...
  25. doi Cohesin and human disease
    Jinglan Liu
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Annu Rev Genomics Hum Genet 9:303-20. 2008
    ..Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases...
  26. ncbi Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements
    Cheryl Descipio
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, School of Medicine, and the University of Pennsylvania, Philadelphia 19104, USA
    Am J Med Genet A 137:276-82. 2005
    ..No pathologic rearrangements were identified...
  27. ncbi 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...
  28. pmc SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
    Jinglan Liu
    Division of Human and Molecular Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    Hum Mutat 30:1535-42. 2009
    ....
  29. pmc Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
    Matthew A Deardorff
    Division of Human and Molecular Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    Am J Hum Genet 80:485-94. 2007
    ....
  30. ncbi Facial features in Alagille syndrome: specific or cholestasis facies?
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:163-70. 2002
    ..These results suggest that the facies seen in Alagille syndrome is specific to this condition and its recognition is a valuable tool in diagnosis...
  31. doi Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
    Sarika Rohatgi
    Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 152:1641-53. 2010
    ..This work underscores the difficulty in diagnosing patients with mild and variant CdLS and serves to objectively classify both useful and misleading features in the diagnosis of CdLS...
  32. pmc Genome-wide DNA methylation analysis in cohesin mutant human cell lines
    Jinglan Liu
    Division of Human Genetics, Abramson Research Institute, Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 38:5657-71. 2010
    ..Our results suggest that in addition to DNA methylation multiple mechanisms may be involved in transcriptional regulation in human cells and in the resultant gene misexpression in CdLS...
  33. doi Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
    Curtis R Coughlin
    Section of Metabolic Disease, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Mol Genet Metab 100:296-9. 2010
    ..We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype...
  34. ncbi Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic
    Dinah Yaeger
    The Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 140:827-36. 2006
    ..2%). Nineteen different variants were identified in the GJB2 gene. Through GJB2 mutational analysis, clinical examination, and laboratory testing, a definitive etiologic diagnosis was established in 110/500 (22%) of patients...
  35. pmc NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
    Ryan McDaniell
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, PA 19104, USA
    Am J Hum Genet 79:169-73. 2006
    ..Renal manifestations, a minor feature in AGS, were present in all the affected individuals. This demonstrates that AGS is a heterogeneous disorder and implicates NOTCH2 mutations in human disease...
  36. doi Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals
    Cheryl Descipio
    Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 146:730-9. 2008
    ..In addition to fine-mapping nearly all of the expected breakpoints, several previously unidentified rearrangements were detected...
  37. ncbi Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study
    Sudha Nallasamy
    Division of Ophthalmology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, USA
    Arch Ophthalmol 124:552-7. 2006
    ..To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings...
  38. ncbi Intracranial vascular abnormalities in patients with Alagille syndrome
    Karan M Emerick
    Division of Gastroenterology, The Children s Memorial Hospital and Northwestern University Medical School, Chicago, Illinois 60614, USA
    J Pediatr Gastroenterol Nutr 41:99-107. 2005
    ....
  39. ncbi Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
    Margaret A Kenna
    Department of Otolaryngology and Communication Disorders, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am J Med Genet A 143:1560-6. 2007
    ....
  40. ncbi A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
    Emma T Tonkin
    Institute of Human Genetics, International Centre for Life, University of Newcastle, NE1 3BZ, Newcastle upon Tyne, Central Parkway, UK
    Hum Genet 115:139-48. 2004
    ..Mutation screening of NAALADL2 in a panel of CdLS patient DNA samples failed to identify patient-specific mutations. We discuss the possibility that the 3q26.3 translocation could nevertheless contribute to pathogenesis...
  41. ncbi Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism
    Kristen J Rasmussen
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 146:261-3. 2008
  42. ncbi Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance
    Antonie D Kline
    Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA
    Am J Med Genet A 143:1287-96. 2007
    ....

Research Grants14

  1. MOLECULAR ANALYSIS IN ALAGILLE SYNDROME
    Ian Krantz; Fiscal Year: 2002
    ....
  2. NIPBL, Cohesin and Related Structural Birth Defects
    Ian Krantz; Fiscal Year: 2007
    ..This proposal outlines a plan to characterize NIPBL's function, identify its target genes and evaluate their role in causing isolated structural birth defects of the types seen in CdLS. ..
  3. Outcomes of Genetic Testing for Hearing Impairment
    Ian Krantz; Fiscal Year: 2005
    ..abstract_text> ..
  4. Molecular Analysis of the Cornelia de Lange Syndrome
    Ian Krantz; Fiscal Year: 2005
    ..abstract_text> ..
  5. CdLS Scientific Symposium and 22nd National Meeting
    Ian Krantz; Fiscal Year: 2004
    ..This meeting will benefit the participants as well as families of affected individuals. ..