Areas of Expertise:
Alagille syndrome and other chromosome 20 abnormalities, Cytogenetic studies of patients with developmental and syndromic disorders permitting identification of genomic rearrangements associated with genetic disease, Molecular cytogenetics
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)
Dr. Spinner's interests are in identifying and understanding genes that contribute to congenital disease. A primary focus of her lab has been to understand the etiology of Alagille syndrome, which affects the liver heart, skeleton, eye face, vasculature and kidney. Her research team identified Jagged1 mutations as the cause of this disorder in 1997. Since then the team has been working to improve diagnostics, define the clinical variability and identify factors that contribute to this variability, and understand how the mutations cause clinical features of this disorder.
Jagged1 mutations have also been implicated in the etiology of biliary atresia and isolated cardiac defects, and Dr. Spinner is now studying how mutations in one gene can cause these varied phenotypes. Jagged1 is a member of the notch signaling pathway, and Dr. Spinner is investigating the role of other genes in this pathway in causing human disease.
- Education and Training
American Board of Medical GeneticsAmerican Board of Medical Genetics/Cytogenetics
Postdoctoral training in cytogenetics at The Children' Hospital of Philadelphia and the University of Pennsylvania School of Medicine
PhD, University of California, Berkeley
- Titles and Academic Titles
Scientific Director, Division of Genomic Diagnostics
Professor of Pathology and Genetics, Perelman School of Medicine at the University of Pennsylvania
- Centers and Programs
- Research Interests
Identification and analysis of genes involved in pediatric disease, with focus on Ring Chromosome 20 syndrome, Alagille syndrome and biliary atresia
Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, Horn D, Shults J, Leonard MB, Grimberg A, Loomes KM. Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):66-70. Read abstract
Kaye AJ, Rand EB, Munoz PS, Spinner NB, Flake AW, Kamath BM. Effect of Kasai Procedure on Hepatic Outcome in Alagille Syndrome. J Pediatr Gastroenterol Nutr. 2010 Jun 30. Read abstract
Kamath BM, Munoz PS, Bab N, Baker A, Chen Z, Spinner NB, Piccoli DA. A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010 May;50(5):526-30. Read abstract
Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB. Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A. 2010 May;152A(5):1326-7. No abstract available.
Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat. 2010 May;31(5):594-601. Read abstract
Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Li JR, Clark D, Kaur M, Tatsuro K, Kline AD, Chang C, Vega H, Jackson LG, Spinner NB, Shirahige K, Krantz ID. Genome-wide DNA methylation analysis in cohesin mutant human cell lines. Nucleic Acids Res. 2010 May 30. [Epub ahead of print]. Read abstract
Leyva-Vega M, Gerfen J, Thiel BD, Jurkiewicz D, Rand EB, Pawlowska J, Kaminska D, Russo P, Gai X, Krantz ID, Kamath BM, Hakonarson H, Haber BA, Spinner NB. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. Am J Med Genet A. 2010 Apr;152A(4):886-95. Read abstract
Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20. Am J Med Genet A. 2010 Feb;152A(2):373-82. Read abstract
Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH. A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet A. 2010 Jan;152A(1):196-202. Read abstract
Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SFA, Hakonarson H, Krantz ID, Spinner NB. SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation. Hum Mut. 30:371-378.
DeScipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Reithman H, Spinner NB, Krantz ID. Two Siblings with Alternate Unbalanced Recombinants Derived from a Large Cryptic Maternal Pericentric Inversion of Chromosome 20 Am J Med Genet Part A. Am J Med Genet A. 2010 Jan 25;152A(2):373-382. [Epub ahead of print]
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Sant E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grunmeier R, Rappaport EF, Grant SFA, White PS, Hakonarson H. High resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res. 2009 Sep;19(9):1682-90. Epub 2009 Jul 10.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab. 94:498-502.
DeScipio C, Spinner NB, Kaur M, Yaeger D, Ambrosini, A, Hu S, Shan S, Conlin LK, Krantz ID, Riethman, H. Fine-Mapping Subtelomeric Deletions and Duplications by Comparative Genomic Hybridization in 42 Individuals. Am J Med Genet A. 146:730-39.
Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, Kolon T. Intracytoplasmic sperm injection (ICSI) with transmission of a Ring Y chromosome and ovotesticular disorder of sex development in offspring. Am J Med Genet A.146A:1828-31.
Suhoski M, Perez EE, Heltzer ML, Laney A, Saitta S, Nachman S, Spinner N, June CH, Orange JS. Monosomy 1p36 associated with OX40 haploinsufficiency and immune deficiency. J Clin Imm. 128:181-89
Krantz ID, Spinner NB. Novel Microdeletion Syndromes. Am J Med Genet C Semin Med Genet.145C:323-26
McDaniell R, Warthen DM, Piccoli DA, Sanchez-Lara PA, Pai A, Krantz ID, Spinner NB NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the Notch Signaling Pathway. Am J Hum Genet. 79:169-73
DeBerardinis RJ, Medne L, Spinner NB, Zackai EH. DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. Am J Med Genet A. 138:155-59.
DeScipio C, Kaur M, Yaeger D, Innis, JW, Spinner NB, Jackson LG, Krantz ID. Chromosome rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet. 137A:276-82.
DeScipio C, Schnieder L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Toutain A, Spinner NB, Krantz, ID (2005) Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C)syndrome. Am J Med Genet A. 134A:3-11.
Sampson MG, Coughlin CR 2nd, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A. 2010 Oct;152A(10):2618-22. Read abstract.