PHILLIP CHANCE

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint Molecular basis of hereditary neuropathies
    P F Chance
    Neurogenetics Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
    Phys Med Rehabil Clin N Am 12:277-91. 2001
  2. ncbi request reprint Overview of hereditary neuropathy with liability to pressure palsies
    P F Chance
    Department of Pediatrics, University of Washington School of Medicine, Seattle 98195, USA
    Ann N Y Acad Sci 883:14-21. 1999
  3. ncbi request reprint Genetic evaluation of inherited motor/sensory neuropathy
    Phillip F Chance
    Neurogenetics Laboratory, Division of Genetics and Developmental Medicine, Box 356320, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA
    Suppl Clin Neurophysiol 57:228-42. 2004
  4. ncbi request reprint Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy
    Phillip F Chance
    Division of Genetics and Developmental Medicine, Children s Hospital and Regional Medical Center, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Room RR247, Seattle, Washington 98195, USA
    Neuromolecular Med 8:159-74. 2006
  5. ncbi request reprint Clinical nosologic and genetic aspects of Joubert and related syndromes
    P F Chance
    Department of Pediatrics, University of Washington School of Medicine and Children s Hospital and Regional Medical Center, Seattle 98195, USA
    J Child Neurol 14:660-6; discussion 669-72. 1999
  6. pmc Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34
    P F Chance
    Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Hum Genet 62:633-40. 1998
  7. doi request reprint Late-onset hereditary axonal neuropathies
    C L Bennett
    Department of Pediatrics, University of Washington Medical School, Children s Hospital and Regional Medical Center, Seattle, WA, USA
    Neurology 71:14-20. 2008
  8. ncbi request reprint Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing
    S G Ryan
    Department of Neurology, Children s Hospital of Philadelphia, Pennsylvania, USA
    Nat Genet 17:92-5. 1997
  9. ncbi request reprint Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
    V A Street
    V M Bloedel Hearing Research Center, Department of Otolaryngology HNS, University of Washington, Seattle 98195, USA
    Neurology 60:22-6. 2003
  10. ncbi request reprint Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
    C L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington and Children s Hospital and Regional Medical Center, Seattle, USA
    Neurogenetics 6:143-9. 2005

Research Grants

Detail Information

Publications41

  1. ncbi request reprint Molecular basis of hereditary neuropathies
    P F Chance
    Neurogenetics Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
    Phys Med Rehabil Clin N Am 12:277-91. 2001
    ..Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) is an autosomal dominant disorder causing painful, recurrent brachial plexopathies and maps to chromosome 17q25...
  2. ncbi request reprint Overview of hereditary neuropathy with liability to pressure palsies
    P F Chance
    Department of Pediatrics, University of Washington School of Medicine, Seattle 98195, USA
    Ann N Y Acad Sci 883:14-21. 1999
    ..2-12. Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) is an autosomal dominant disorder causing painful, recurrent brachial plexopathies and maps to chromosome 17q25...
  3. ncbi request reprint Genetic evaluation of inherited motor/sensory neuropathy
    Phillip F Chance
    Neurogenetics Laboratory, Division of Genetics and Developmental Medicine, Box 356320, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA
    Suppl Clin Neurophysiol 57:228-42. 2004
    ..CMT1A and HNPP are reciprocal duplication/deletion syndromes that originate from unequal crossover during germ cell meiosis. Other rare forms of demyelinating peripheral neuropathies map to chromosome 8q, 10q and 11q...
  4. ncbi request reprint Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy
    Phillip F Chance
    Division of Genetics and Developmental Medicine, Children s Hospital and Regional Medical Center, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Room RR247, Seattle, Washington 98195, USA
    Neuromolecular Med 8:159-74. 2006
    ..HNA is genetically linked to chromosome 17q25, where mutations in the septin-9 (SEPT9) gene have been found...
  5. ncbi request reprint Clinical nosologic and genetic aspects of Joubert and related syndromes
    P F Chance
    Department of Pediatrics, University of Washington School of Medicine and Children s Hospital and Regional Medical Center, Seattle 98195, USA
    J Child Neurol 14:660-6; discussion 669-72. 1999
    ..This observation, along with those from clinical studies, provides further evidence that Joubert and related syndromes are genetically heterogeneous...
  6. pmc Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34
    P F Chance
    Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Hum Genet 62:633-40. 1998
    ..These results extend the degree of heterogeneity within familial ALS syndromes, and they implicate a gene on chromosome 9q34 as critical for motor-neuron function...
  7. doi request reprint Late-onset hereditary axonal neuropathies
    C L Bennett
    Department of Pediatrics, University of Washington Medical School, Children s Hospital and Regional Medical Center, Seattle, WA, USA
    Neurology 71:14-20. 2008
    ..Onset is usually in childhood, adolescence, or young adulthood. The objective of this study was to define late-onset forms of the disorder...
  8. ncbi request reprint Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing
    S G Ryan
    Department of Neurology, Children s Hospital of Philadelphia, Pennsylvania, USA
    Nat Genet 17:92-5. 1997
    ..Assignment of the EFMR disease locus (EFMR) to the X chromosome indicates that selective involvement of females in X-linked disease may in some instances result from male sparing rather than male lethality...
  9. ncbi request reprint Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
    V A Street
    V M Bloedel Hearing Research Center, Department of Otolaryngology HNS, University of Washington, Seattle 98195, USA
    Neurology 60:22-6. 2003
    ..Charcot-Marie-Tooth (CMT) neuropathy is a heterogeneous group of inherited disorders of the peripheral nervous system. The authors recently mapped an autosomal dominant demyelinating form of CMT type 1 (CMT1C) to chromosome 16p13.1-p12.3...
  10. ncbi request reprint Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
    C L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington and Children s Hospital and Regional Medical Center, Seattle, USA
    Neurogenetics 6:143-9. 2005
    ..In this study, we establish genetic heterogeneity for PDS, catalog 21 genes within the originally defined PDS interval, and identify additional recombinations that indicate a higher priority interval, containing just 11 genes...
  11. pmc AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
    M A Parisi
    Department of Pediatrics, Children s Hospital and Regional Medical Center and the University of Washington School of Medicine, Seattle, WA 98195, USA
    J Med Genet 43:334-9. 2006
    ..Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1)...
  12. pmc Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
    D Doherty
    University of Washington, Seattle, WA 98195 0320, USA
    J Med Genet 47:8-21. 2010
    ..To identify genetic causes of COACH syndrome..
  13. pmc SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy
    M C Hannibal
    Department of Pediatrics, University of Washington School of Medicine, Seattle, 98195 6320, USA
    Neurology 72:1755-9. 2009
    ..A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9, encoding the septin-9 protein, have been identified...
  14. pmc X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3
    C L Bennett
    Department of Pediatrics, University of Washington School of Medicine, Seattle, USA
    Am J Hum Genet 66:461-8. 2000
    ..We conclude that XPID maps to Xp11.23-Xq13.3 and that mutations of WASP are not associated with XPID...
  15. ncbi request reprint Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy
    P Y Jeannet
    Division of Pediatric Neurology, Children's Hospital and Regional Medical Center, Seattle, WA, USA
    Neurology 57:1963-8. 2001
    ..CONCLUSIONS: The phenotypic consequences of the mutant hereditary neuralgic atrophy gene may include a wider spectrum than previously appreciated and involve nonneural tissue...
  16. ncbi request reprint Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy
    G D Watts
    Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle 98195, USA
    Neurology 56:675-8. 2001
    ..Two pedigrees with clinically typical HNA in which markers from chromosome 17q25 do not cosegregate with the disease and in which lod scores do not support linkage to chromosome 17q25 were identified...
  17. ncbi request reprint Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25
    J E Pellegrino
    Division of Neurology Research, Abramson Pediatric Research Center, Children s Hospital of Philadelphia, PA 19104, USA
    Hum Genet 101:277-83. 1997
    ..These results support genetic homogeneity within HNA and define a specific interval and a precise cytogenetic location in chromosome 17q25 for this disorder...
  18. doi request reprint Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy
    A M B Collie
    Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
    J Med Genet 47:601-7. 2010
    ..This duplication was identified in 12 pedigrees that all shared a common founder haplotype...
  19. ncbi request reprint The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    C L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA
    Nat Genet 27:20-1. 2001
    ..Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3...
  20. ncbi request reprint A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome
    C L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Seattle, WA 98195, USA
    Immunogenetics 53:435-9. 2001
    ..We suggest that this mutation is causal of IPEX in this family by a mechanism of nonspecific degradation of the FOXP3 gene message...
  21. ncbi request reprint Is there a familial carpal tunnel syndrome? An evaluation and literature review
    J G Gossett
    Division of Neurology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, 19104, USA
    Muscle Nerve 21:1533-6. 1998
    ..In all but two pedigrees an explanation other than FCTS was found. We conclude that the FCTS is a rare, but genetically distinct disorder...
  22. ncbi request reprint New gene for CMT
    Valerie A Street
    J Peripher Nerv Syst 8:206. 2003
  23. ncbi request reprint SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease
    Andrew J Shirk
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington School of Medicine, Seattle, Washington 98195, USA
    J Neurosci Res 82:43-50. 2005
    ..We examine three CMT1C-associated SIMPLE mutations and show that they do not affect the interaction with NEDD4 or TSG101, nor do they lead to altered subcellular localization...
  24. ncbi request reprint Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1
    Ian P Blair
    Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98195, USA
    Am J Med Genet 107:190-6. 2002
    ..The BARHL1 gene, which localizes to chromosome 9q34 and has previously been proposed as a strong positional candidate gene for JS, was also investigated and excluded from involvement in JS that is linked to chromosome 9q34...
  25. pmc Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies
    Valerie A Street
    V M Bloedel Hearing Research Center, Department of Otolaryngology Head and Neck Surgery, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 70:244-50. 2002
    ..The epithelial membrane protein 2 gene (EMP2), which maps to chromosome 16p13.2, was evaluated as a candidate gene for CMT1C...
  26. ncbi request reprint Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
    Joseph G Gleeson
    Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093 0624, USA
    Am J Med Genet A 125:125-34; discussion 117. 2004
    ..Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes...
  27. ncbi request reprint Joubert syndrome (and related disorders) (OMIM 213300)
    Melissa A Parisi
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195 6320, USA
    Eur J Hum Genet 15:511-21. 2007
    ..Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Additional genes remain to be identified...
  28. ncbi request reprint Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families
    Giles D J Watts
    Department of Pediatrics, University of Washington, Box 356320, Seattle, WA 98195, USA
    Hum Genet 110:166-72. 2002
    ..These findings suggest that, for the pedigrees from the United States, there are at least two different mutations in the HNA gene...
  29. ncbi request reprint Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI
    Dan Doherty
    University of Washington Children s Hospital and Regional Medical Center, Department of Pediatrics, Seattle, WA, USA
    Prenat Diagn 25:442-7. 2005
    ..To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI...
  30. pmc The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
    Melissa A Parisi
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Hum Genet 75:82-91. 2004
    ..Cerebellar malformations consistent with the MTS may be relatively common in patients with juvenile NPHP without classic symptoms of JS...
  31. ncbi request reprint SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
    Craig L Bennett
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA, USA
    Ann Neurol 55:713-20. 2004
    ..We report the expression of SIMPLE in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C...
  32. ncbi request reprint Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study
    Melissa A Parisi
    Department of Pediatrics, University of Washington, School of Medicine, Seattle 98195, USA
    J Child Neurol 19:214-8. 2004
    ..Malformation of the hindbrain could result in recruitment of alternative pathways, similar to what has been observed following ischemic injury to the developing or mature central nervous system...
  33. ncbi request reprint Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
    Craig L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington, School of Medicine, Seattle, Washington 98195, USA
    Am J Med Genet A 125:117-24; discussion 117. 2004
    ....
  34. ncbi request reprint Electrodiagnostic evaluation of hereditary motor and sensory neuropathies
    Gregory T Carter
    Department of Rehabilitation Medicine, University of Washington School of Medicine, 1959 Northeast Pacific Avenue, Seattle, WA 98195, USA
    Phys Med Rehabil Clin N Am 14:347-63, ix-x. 2003
    ..Nevertheless, there are exceptions. This article reviews the available literature and describes the electrodiagnostic approach to HMSN, detailing potential sources of error that can lead to misinterpretation of data...
  35. ncbi request reprint Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy
    Gert Hünermund
    Department of Neurology, University of Munster, Albert Schweitzer Strasse 33, 48129 Munster, Germany
    Muscle Nerve 29:601-4. 2004
    ..However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms...
  36. pmc DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
    Ying Zhang Chen
    Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 74:1128-35. 2004
    ..These observations of ALS4 suggest that mutations in SETX may cause neuronal degeneration through dysfunction of the helicase activity or other steps in RNA processing...
  37. ncbi request reprint Charcot-Marie-Tooth disease: electrophysiology, molecular genetics and clinical management
    Greg T Carter
    University of Washington School of Medicine, Department of Rehabilitation Medicine, Seattle, WA 98531, USA
    IDrugs 7:151-9. 2004
    ....
  38. ncbi request reprint Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
    Ying Zhang Chen
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington School of Medicine, Seattle, WA 63110, USA
    Neurobiol Dis 23:97-108. 2006
    ..We report here the first characterization of SETX protein, which may provide future insights into a new mechanism leading to neuron death...
  39. ncbi request reprint Mutations in SEPT9 cause hereditary neuralgic amyotrophy
    Gregor Kuhlenbäumer
    Department of Neurology, University of Munster, Domagkstr 3, D 48149 Munster, Germany
    Nat Genet 37:1044-6. 2005
    ..HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis...
  40. ncbi request reprint Neurotrophin-3 therapy for Charcot-Marie-Tooth disease type 1A
    David E Pleasure
    Neurology 65:662-3. 2005
  41. ncbi request reprint Molecular basis of hereditary neuropathies
    Giles D J Watts
    Neurogenetics Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98195, USA
    Adv Neurol 88:133-46. 2002

Research Grants13

  1. Identification and characterization of the ALS4 gene
    PHILLIP CHANCE; Fiscal Year: 2006
    ..Specific Aim (5) is to develop an animal model of ALS4 by introducing an identified disease-causing mutation into the germline of the mouse by employing either transgenesis or gene targeting. ..
  2. MOLECULAR BASIS OF HEREDITARY NEURALGIC AMYOTROPHY
    PHILLIP CHANCE; Fiscal Year: 2007
    ..Moreover, characterization of the HNA gene may have broader pathophysiological and therapeutic implications for more common idiopathic forms of brachial neuropathy. ..
  3. MOLECULAR BASIS OF HEREDITARY NEURALGIC AMYOTROPHY
    PHILLIP CHANCE; Fiscal Year: 2001
    ..Moreover, characterization of the HNA gene may have broader pathophysiological and therapeutic implications for more common idiopathic forms of brachial neuropathy. ..