Faculty

Antony E Shrimpton, Ph.D. Associate Professor, Pathology 4850 University Hospital Upstate Medical University 750 East Adams Street Syracuse, NY 13210 315-464-6806

Clinical Specialty

Clinical Department/Section Affiliations

Research Program and Department Affiliations

Research Interests

Research Abstract

I am interested in gene identification and mutation characterization in human diseases including the genes for Congenital vertical talus (CVT)and pes cavus, Familial Encephalopathy with Neuroserpin inclusion bodies(FENIB), Dent disease, Desbuquois dysplasia and Autism genetics.

Familial Encephalopathy with Neuroserpin inclusion bodies(FENIB) is a rare autosomal dominant disorder characterized by dementia and epilepsy and unique inclusion bodies in the cerebral cortex. Specific mutations in the Neuroserpin gene (SERPINI1)can result in neuroserpin polymerization and accumulation within neurones. These inclusion bodies are composed of aggregates of mutant neuroserpin which are correlated with disease severity.

Investigation of a family with autosomal dominant congenital vertical talus (CVT)and/or pes cavus lead to the identification of a mutation in the HOXD10 gene.

Dent disease is an X-linked disorder characterized by renal Fanconi syndrome with nephrocalcinosis and renal stones, with mutations so far identified in the CLCN5 and OCRL1 genes.

Selected Bibliography

AE, Shrimpton*,RR, Hoopes*,SJ, Knohl,P Hueber,...... and S J. Scheinman. (2009). OCRL1 Mutations in Dent 2 PatientsSuggest a Mechanism for PhenotypicVariability. In Press Nephron Physiology 168:

Shrimpton AE, Levinsohn EM HOXD10 and congenital vertical talus. Chapter 71 “Inborn errors of development” Second Edition. Ed Epstein CJ, Erickson RP, Wynshaw-BorisA. Oxford University Press NY, 2008 pp 682-688.

Mehra A, Tull J, Shrimpton AE, dela Rosa G, Valente A, Zhang S. (2008) Detection of FKHR (FOX01) gene break-apart by Fluorescence in situ hybridization (FISH) in fomalin fixed paraffin embedded Alveolar Rhabdomyosarcomas.Diagnostic Molecular Pathology, 17(1): 14-20.

Shrimpton AE, Schelper RL, Linke RP, Hardy J, Crook R, Dickson DW, Ishizawa T, Davis RL. (2007) A PSEN1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques and seizures, but not spastic paraparesis. Neuropathology 27:228-232.

Chandan VS, Schelper RL, Shrimpton AE, Hutchison RE, Chang HT (2006). A 33-year-old male with multiple ring-enhancing lesions in the brain. Neuropathology 26;94-97.

Shrimpton AE, Jensen J, Hoo JJ (2006). Virtually normal phenotype in 3p26 deletion and mild cognitive deficit in 8q24.3 duplication : Karyotype-phenotype analysis with molecular delineation of rearrangement. Am J of Med Genet 140A:388-391.

Middleton FA,Trauzzi M, Shrimpton AE, Gentile KL, Morley CP, Medeiros H, Pato MT, Pato CN (2006). Complete maternal uniparental isodisomy of chromosome 4 in a patient with major depressive disorder detected by high throughput SNP genotyping arrays. Am. J Med Genet. 141(1):28-32.

Shrimpton AE, Hoo JJ (2006). A TNNI2 mutation in a family with Distal Arthrogryposis type 2B. European Journal of Medical Genetics 49:201-6.

Bernaki SH...Shrimpton AE...et. al.(2005) Genetically characterized positive control cell lines derived from residual clinical blood samples. Clinical Chemistry 51(11):2013-24.

Bernaki SH, Beck JC, Muralidharan K, Scaefer FV, Shrimpton AE, Richie KL, Pont-Kingdon G, Stenzel TT. (2005) Characterization of publicaly available lymphoblastoid cell lines for disease-causing mutations in eleven genes. Clinical Chemistry 51(11):2156-9.

Mukhopadhyay S, Readling J, Cotter PD, Shrimpton AE, Sidhu JS.(2005) Transformation of a follicular lymphoma to Burkitt-like lymphoma within a single lymph node. Human Pathology 36:571-5.

Hoo JJ, Shrimpton AE. (2005) Familial hyper- and hypopigmentation with age-related pattern change. Am. J. Medical Genetics A 132:215-8.

Hoopes RR*, Shrimpton AE*, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL and Scheinman SJ. Dent disease with mutations in OCRL1.(2005) Am J.Hum.Genetics (Feb) 76:260-267

Shrimpton AE, BraddockBR, Thomson LL, Stein CK, HooJJ. Molecular delineation of deletions on 2q37.3 in three cases with an Albright Hereditary Osteodystrophy-like phenotype. (2004) Clinical Genetics 66(6):537-544

Levinsohn EM, Shrimpton AE, Cady RB, Packard DS Jr, Hootnick DR. Congenital vertical talus in four generations of the same family. (2004) Skeletal Radiol. 33(11):649-54.

Henry JB., Hubbell CA, Davis MC., Fernandez-Vina MA., Yunis EJ, Shrimpton AE. A new HLA-A1 mutation: A novel, null variant allele.(2004) Am J of Clinical Pathology 122:185-192

Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB , Middleton FA, Hootnick DR. A HOX Gene Mutation in a Family with Isolated Congenital Vertical Talus and Charcot-Marie-Tooth Disease. (2004) Am J of Human Genetic 75:92-96.

Mukhopadhyay S, Shrimpton AE, Jones L, Nsouli IS, Abraham NZ. Case study. Cyclophosphamide-induced carcinosarcoma of the urinary bladder: a case report with immunohistochemical and molecular analysis. (2004) Archives of Pathology & Laboratory Medicine 128:e8-e11

Bernacki SH, Farkas DH, .., Shrimpton AE & Stenzel TT. (2003) Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations. Archives of Pathology & Laboratory Medicine 127:1565-1572.

Liu D, Schelper RL, Carter DA, Poiesz BJ, Shrimpton AE, Frankel BM & Hutchison RE. (2003) Primary central nervous system cytotoxic T-cell lymphoma: Report of a unique case and review of the literature. American Journal of Surgical Pathology 27(5):682-688.

Hicks K, Beadling W, Shrimpton AE. (2002) Cystic Fibrosis: S158N (605 G > A) is a rare genetic variant found in coupling with delta F508. Genetic Testing 7(1):73-76.

Davis RL, Shrimpton AE et al. (2002) Association between conformational mutations in neuroserpin and onset and severity of dementia. Neuroserpin mutations determine inclusion-body formation and severity of myoclonus epilepsy and dementia. Lancet 359:2242-47.

Shrimpton AE. Molecular diagnosis of cystic fibrosis: a review. (2002).Expert Rev. Mol. Diagn. 2(3),240-256.

McNairn JDK, Damron TA, Landas SK, Shrimpton AE. (2001) Inheritance of Osteosarcoma and Paget’s disease of bone: A familial genetics study and report of two family members. J of Mol Diagnostics 3:171-177.

Shrimpton AE, Thomson LL and Hoo JJ.(2001) Duchenne muscular dystrophy as a contiguous gene syndrome: Del (X) (p21.2p21.3) with absence of dystrophin but normal multiplex PCR. International Pediatrics 16(3):168-172.

Bradshaw CB, Davis RL, Shrimpton AE, Holohan PD, Rea CB, Feiglin D, Kent P, Collins GH. (2001) Cognitive deficits associated with a recently reported familial neurodegenerative disease: FENIB. Arch Neurol 58:1429-1434.

Lamberson C, Hutchison RE and Shrimpton AE. (2001) A PCR assay for detecting clonal rearrangement of the TCR-gamma gene. Molecular Diagnostics 6(2):117-124.

LaDine BJ, Simmons JA, Shrimpton AE, and Hoo JJ. (2001) A syndrome of short stature, Widow’s peak, ptosis, posteriorly angulated ears and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene. Am J Med Genetics 99:248-251.

Briault S. Villard L. Rogner U. Coy J. Odent S. Lucas J. Passage E. Zhu DP.Shrimpton AE. Pembrey M. Till M. Guichet A. Dessay S. Fontes M. Poustka A. Moraine C . (2000) Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]? American Journal of Medical Genetics. 95(2):178-181.

Finch CN, Nichols M, Shrimpton AE, Liu D and Hutchison RE. (2000) Primary nodal marginal zone B-cell lymphoma arisen from more than one clonal neoplastic population. Archives of Pathology and Laboratory Medicine 124:1816-1819.

Davis RL, Holohan PD, Shrimpton AE, et al. (1999) Familial encephalopathy with neuroserpin inclusion bodies (FENIB): Am J. Pathology155;1901-1913.

Davis RL*, Shrimpton AE*, et al. (1999) Familial dementia caused by polymerization of mutant neuroserpin. Nature 401:376-379.

Shrimpton AE, Daly K, and Hoo JJ (1999). Mapping of a gene (MRXS9) for X-Linked Mental Retardation, microcephaly and variably short stature to Xq12 - q21.31. Am J Med Genet.84:293-299.

Whittaker M., Shrimpton A.E. & Leonard D. (1999) Guidelines for in-house development of Molecular Pathology tests. Am. Journal of Clinical Pathology 111(4):449-463.

Friedman HD, Sanderson SO, Stein CK, Shrimpton AE, Gonchoroff NJ, Zamkoff KW & Loughran TP (1998). Extramedullary granulocytopoiesis mimicking recur-rent lymphoma after prolonged administration of human recombinant Granulocyte-colony stimulating factor. Annals of Hematology 77:79-83.

Davis RL, Holohan PD, Shrimpton AE, et al. (1999) Familial encephalopathy with neuroserpin inclusion bodies (FENIB): Am J. Pathology 155;1901-1913.

Davis RL, Shrimpton AE, et al. (1999) Familial dementia caused by polymerization of mutant neuroserpin. Nature 401:376-379

Briault S., Hill R., Shrimpton A.E. et.al. (1997) A gene for FG syndrome maps in the Xq12-q21.31 region. Accepted by Am J of Med Genet.

Shrimpton A.E., Borowitz D. & Swender P.(1997) CF mutation Analysis in Upstate New York. Accepted Human Mutation

Shrimpton A.E., & Borowitz D.(1997) A novel cystic fibrosis mutation involving the deletion of exons 14b through 18 (CF?20kbdel 14b-18) in a cystic fibrosis patient of German descent from Upstate New York. Accepted Human Mutation

zur Lage P., Shrimpton A.E., Flavell AJ., Mackay T.F.C. & Leigh-Brown A.J. Genetic and Molecular analysis of the smooth, a Quantitative Trait Locus affecting Bristle number in Drosophila melanogaster. Genetics 146:607-618

Brock D.J.H., Mennie M.E., McIntosh I., Jones C. and Shrimpton A.E. Heterozygote screening for Cystic Fibrosis. In Antenatal Diagnosis of Fetal Abnormalities edited by Drife J.O. & Donnai D. (1991) Springer Verlag.

Cashman SM.,...Shrimpton A. E., et.al. (1995) Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients.. Human Heredity 45(1):6-12

Kiesewetter S., Macek M., Curristin S.M., Chu C-S., Trapnell B.C., Graham C., Shrimpton A.E.,....and Cutting G.R. (1993) A mutation in the cystic fibrosis transmembrane conductance regulator gene produces different phenotypes depending on genetic background. Nature Genetics 5(3):274-277.

Shrimpton AE., Davidson R. MacDonald N. and Brock DJH.(1993) Presymptomatic testing for Autosomal Dominant Spinocerebellar Ataxia type I. J. Med. Genet.30:616-617.

Miedzybrodzka Z., Kelly K., Davidson M., Little S., Shrimpton A.E., Dean J. & Haites N. (1992) Prenatal Diagnosis for the cystic fibrosis mutation 1717-1,G->A using ARMS.Prenatal Diagnosis 12(10):845-849.

Shrimpton A.E. & Brock D.J.H.(1992) Molecular Carrier screening of partners of Cystic Fibrosis Heterozygotes. Genetic Counselling 3(1);13-18.

Holloway S.M., Strain L., Shrimpton A.E., Wright A.F., Aldred M.A., Brosnahan D., Hammer H., Jay M. & Brock D.J.H.(1991) Risk calculation in Retinitis Pigmentosa. American J of Human Genetics 49:1094-1098.

Ragoussis J., Jones T.A., Sheer D., Shrimpton A.E., Goodfellow P.N., Trowsdale J. & Ziegler A. (1991) Isolation of probes specific to human chromosomal region 6p21 from immunoselected irradiation-fusion gene transfer hybrids. Genomics 10:598-607.

Brock D.J.H., Shrimpton A.E., Jones C. & McIntosh I. Cystic Fibrosis: the new genetics. (1991) J. of the Royal Society of Medicine Supplement No.18, 84:2-6.

Barron L., Curtis A., Shrimpton A.E., Holloway S., Snell R.G. & Brock D.J.H. (1991) Linkage disequilibrium and recombination make a telomeric site for the Huntinton's disease gene unlikely. J. Med. Genet.28:520-522.

Additional Information

This profile was last updated on 02/24/2009

A short link is available for this profile:
http://www.upstate.edu/pathology/faculty.php?ID=shrimpta