Show simple item record

Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology

dc.contributor.authorUhlmann, Wendy R.en_US
dc.contributor.authorPeñaherrera, Maria S.en_US
dc.contributor.authorRobinson, Wendy P.en_US
dc.contributor.authorMilunsky, Jeff M.en_US
dc.contributor.authorNicholson, Jane M.en_US
dc.contributor.authorAlbin, Roger L.en_US
dc.date.accessioned2015-05-04T20:36:30Z
dc.date.available2016-07-05T17:27:59Zen
dc.date.issued2015-05en_US
dc.identifier.citationUhlmann, Wendy R.; Peñaherrera, Maria S. ; Robinson, Wendy P.; Milunsky, Jeff M.; Nicholson, Jane M.; Albin, Roger L. (2015). "Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology." American Journal of Medical Genetics Part A 167(5): 1152-1160.en_US
dc.identifier.issn1552-4825en_US
dc.identifier.issn1552-4833en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/111167
dc.publisherWiley Periodicals, Inc.en_US
dc.subject.otherhomozygotesen_US
dc.subject.otherhomozygosityen_US
dc.subject.otherreduced penetrance allelesen_US
dc.subject.otherintermediate allelesen_US
dc.subject.othercompound heterozygoteen_US
dc.subject.otherbiallelic Huntington diseaseen_US
dc.subject.otherbiallelic mutationsen_US
dc.subject.otherHuntington disease (HD)en_US
dc.subject.otheruniparental disomy (UPD)en_US
dc.subject.othercompound heterozygosityen_US
dc.titleBiallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminologyen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/111167/1/ajmga37009.pdf
dc.identifier.doi10.1002/ajmg.a.37009en_US
dc.identifier.sourceAmerican Journal of Medical Genetics Part Aen_US
dc.identifier.citedreferenceSemaka A, Hayden MR. 2014. Evidence‐based genetic counseling implications for Huntington disease intermediate allele predictive test results. Clin Genet 85: 303 – 311.en_US
dc.identifier.citedreferenceMaat‐Kievit A, Helderman‐van den Eden P, Losekoot M, de Knijff P, Belfroid R, Vegter‐van der Vlis M, Roos R, Breuning M, 2001b. Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease. Am J Med Genet 105: 737 – 744.en_US
dc.identifier.citedreferenceMiddleton FA, Trauzzi MG, Shrimpton AE, Gentile KL, Morley CP, Medeiros H, Pato MT, Pato CN. 2006. Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays. Am J Med Genet B Neuropsychiatr Genet 141B: 28 – 32.en_US
dc.identifier.citedreferenceMyers RH, Leavitt J, Farrer LA, Jagadeesh J, McFarlane H, Mastromauro CA, Mark RJ, Gusella JF. 1989. Homozygote for Huntington disease. Am J Hum Genet 45: 615 – 618.en_US
dc.identifier.citedreferenceRaskin S, Allan N, Teive HA, Cardoso F, Haddad MS, Levi G, Boy R, Lerena J, Sotomaior VS, Janzen‐Duck M, Jardim LB, Fellander FR, Andrade LAF. 2000. Huntington disease: DNA analysis in Brazilian population. Arq Neuropsiquiatr 58: 977 – 985.en_US
dc.identifier.citedreferenceSanchez A, Castellvi‐Bel S, Mila M, Genis D, Calopa M, Jimenez D, Estivill X. 1996. Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis. J Neurosurg Psychiatry 61: 625 – 627.en_US
dc.identifier.citedreferenceSanchez A, Mila M, Castellvi‐Bel S, Rosich M, Jimenez D, Badenas C, Estivill X. 1997. Maternal transmission in sporadic Huntington's disease. J Neurol Neurosurg Psychiatry 62: 535 – 537.en_US
dc.identifier.citedreferenceScionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R. 2012. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic testing. J Med Genet 49: 171 – 178.en_US
dc.identifier.citedreferenceSemaka A, Creighton S, Warby S, Hayden MR. 2006. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet 70: 283 – 294.en_US
dc.identifier.citedreferenceSemaka A, Collins JA, Hayden MR. 2010. Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles). Am J Med Genet Part B 153B: 314 – 320.en_US
dc.identifier.citedreferenceSemaka A, Kay C, Doty C, Collins JA, Bijlsma EK, Richards F, Goldberg YP, Hayden MR. 2013a. CAG size‐specific risk estimates for intermediate allele repeat instability in Huntington disease. J Med Genet 50: 696 – 703.en_US
dc.identifier.citedreferenceSemeka A, Kay C, Doty CN, Collins JA, Tam N, Hayden MR. 2013b. High frequency of intermediate alleles on Huntington disease‐associated haplotypes in British Columbia's general population. Am J Med Genet Part B 162B: 864 – 871.en_US
dc.identifier.citedreferencePotter NT, Spector EB, Prior TW. 2004. Technical standards and guidelines for Huntington disease testing. Genet Med 6: 61 – 65.en_US
dc.identifier.citedreferenceSemaka A, Kay C, Belfroid RD, Bijlsma EK, Losekoot M, van Langen IM, van Maarle MC, Oosterloo M, Hayden MR, van Belzen MJ. 2015. A new mutation for Huntington disease following maternal transmission of an intermediate allele. Eur J Med Genet 58: 28 – 30.en_US
dc.identifier.citedreferenceSequeiros J, Ramos EM, Cerqueira J, Costa MC, Sousa A, Pinto‐Basto J, Alonso I. 2010. Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population. Clin Genet 78: 381 – 387.en_US
dc.identifier.citedreferenceShi SS, Lin Y, Zhao GX, Gan SR, Wu ZY. 2012. A Chinese pedigree with an individual homozygous for CAG repeats of Huntington's disease. Psychiatr Genet 22: 53 – 54.en_US
dc.identifier.citedreferenceSnell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 4: 393 – 397.en_US
dc.identifier.citedreferenceSpena S, Duga S, Asselta R, Peyvandi F, Mahasandana C, Malcovati M, Tenchini ML. 2004. Congenital afibrinogenaemia caused by uniparental disomy of chromosome 4 containing a novel 15‐kb deletion involving fibrinogen Aα‐chain gene. Eur J Hum Genet 12: 891 – 898.en_US
dc.identifier.citedreferenceSquitieri F, Gellera C, Cannella M, Mariotti C, Cislaghi G, Rubinsztein DC, Almqvist EW, Tuner D, Bachoud‐Levi AC, Simpson SA, Delatycki M, Maglione V, Hayden MR, Donato SD. 2003a. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 126: 946 – 955.en_US
dc.identifier.citedreferenceSquitieri F, Almqvist EW, Cannella M, Cislaghi G, Hayden MR. 2003b. Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene. Clin Genet 64: 524 – 525.en_US
dc.identifier.citedreferenceSquitieri F, Jankovic J. 2012. Huntington's disease: how intermediate are intermediate repeat lengths ? Mov Disord 27: 1714 – 1717.en_US
dc.identifier.citedreferenceTassiker RJ, Marshall PK, Liebeck TA, Keville MA, Singaram BM, Richards FH. 2006. Predictive and pre‐natal testing for Huntington disease in Australia: results and challenges encountered during a 10‐year period (1994–2003). Clin Genet 70: 480 – 489.en_US
dc.identifier.citedreferenceWarby SC, Graham RK, Hayden MR. Huntington Disease. 1998. Oct 23 [Updated 2014 Dec 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993‐. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1305/.en_US
dc.identifier.citedreferenceWexler NS, Young AB, Tanzi RE, Travers H, Starosta‐Rubinstein S, Penney JB, Snodgrass SR, Shoulson I, Gomez F, Ramos‐Arroyo MA, Penchaszadeh GK, Moreno H, Gibbons K, Faryniarz A, Hobbs W, Anderson MA, Bonilla E, Conneally PM, Gusella JF. 1987. Homozygotes for Huntington's disease. Nature 326: 194 – 197.en_US
dc.identifier.citedreferenceWexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez‐Jaurrieta MD, Ramos‐Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo‐Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B. U.S. ‐Venezuela Collaborative Research Project. 2004. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset PNAS 101: 3498 – 3503.en_US
dc.identifier.citedreferenceYamazawa K, Ogata T, Ferguson‐Smith AC. 2010. Uniparental disomy and human disease: an overview. Am J Med Genet Part C Semin Med Genet 154C: 329 – 334.en_US
dc.identifier.citedreferenceYao RE, Wang J, Geng J, Zheng Z, Yu T, Yu Y, Fu Q. 2012. Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia. J Pediatr Endocr Metab 25: 769 – 773.en_US
dc.identifier.citedreferenceYoungblom E, Knowles JW. 2014. Jan 2. Familial hypercholesterolemia. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993‐. Available from: http://www.ncbi.nlm.nih.gov/books/NBK174884/.en_US
dc.identifier.citedreferenceYoung AB, Shoulson I, Penney JB, Starosta‐Rubinstein S, Gomez F, Travers H, Ramos‐Arroyo MA, Snodgrass SR, Bonilla E, Moreno H, Wexler NS. 1986. Huntington's disease in Venezuela: Neurologic features and functional decline. Neurology 36: 244 – 249.en_US
dc.identifier.citedreferenceAlonso ME, Yescas P, Rasmussen A, Ochoa A, Macias R, Ruiz I, Suastegui R. 2002. Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis. Clin Genet 61: 437 – 442.en_US
dc.identifier.citedreferenceAmerican College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. 1998. ACMG/ASHG statement: laboratory guidelines for Huntington disease genetic testing Am J Hum Genet 62: 1243 – 1247.en_US
dc.identifier.citedreferenceAziz NA, Jurgens CK, Landwehrmeyer GB, EHDN Registry Study Group, van Roon‐Mom WM, van Ommen GJ, Stijnen T, Roos RA. 2009. Normal and mutant HTT interact to affect clinical severity and progression in Huntington's disease. Neurology 73: 1280 – 1285.en_US
dc.identifier.citedreferenceAziz NA, van Belzen MJ, Coops ID, Belfroid RD, Roos RA. 2011. Parent‐of‐origin differences of mutant HTT CAG repeat instability in Huntington's disease. Eur J Med Genet 54: e413 – e418.en_US
dc.identifier.citedreferenceBrocklebank D, Gayan J, Andresen JM, Roberts SA, Young AB, Snodgrass SR, Penney JB, Ramos‐Arroyo MA, Cha JJ, Rosas HD, Hersch SM, Feigin A, Cherny SS, Wexler NS, Housman DE, Cardon LR. International‐Venezuela Collaborative Research Group. 2009. Repeat instability in the 27–39 CAG range of the HD gene in the Venezuelan kindreds: counseling implications Am J Med Genet Part B Neuropsychiatr Genet 150B: 425 – 429.en_US
dc.identifier.citedreferenceCosta MC, Magalhaes P, Ferreirinha F, Guimaraes L, Januario C, Gaspar I, Loureiro L, Vale J, Garrett C, Regateiro F, Magalhaes M, Sousa A, Maciel P, Sequeiros J. 2003. Molecular diagnosis of Huntington disease in Portugal: implications for genetic counseling and clinical practice. Eur J Hum Genet 11: 872 – 878.en_US
dc.identifier.citedreferenceCottrell CE, Mendell J, Hart‐Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier‐Foster JM, Pyatt RE. 2012. Maternal uniparental disomy of chromosome 4 in a patient with limb‐girdle muscular dystrophy 2E confirmed by SNP array technology. Clin Genet 81: 578 – 583.en_US
dc.identifier.citedreferenceDing Q, Ouyang Q, Xi X, Wang X, Shen Y, Wang H. 2012. Maternal chromosome 4 heterodisomy/isodisomy and B ≡chain Trp323X mutation resulting in severe hypodysfibrinogenaemia. Thromb Haemost 108: 654 – 661.en_US
dc.identifier.citedreferenceDjousse L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gomez‐Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH. 2003. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A 119A: 279 – 282.en_US
dc.identifier.citedreferenceDurr A, Hahn‐Barma V, Brice A, Pecheux C, Dode C, Feingold J. 1999. Homozygosity in Huntington's disease. J Med Genet 36: 172 – 173.en_US
dc.identifier.citedreferenceElli FM, Ghirardello S, Giavoli C, Gangi S, Dioni L, Crippa M, Finelli P, Bergamaschi S, Mosca F, Spada A, Beck‐Peccoz P. 2012. A new structural arrangement associated to Wolfram syndrome in a child with a partial phenotype. Gene 509: 168 – 172.en_US
dc.identifier.citedreferenceEngel E. 2006. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 14: 1158 – 1169.en_US
dc.identifier.citedreferenceEvans SJ, Douglas I, Rawlins MD, Wexler NS, Tabrizi SJ, Smeeth L. 2013. Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records. J Neurol Neurosurg Psychiatry 84: 1156 – 1160.en_US
dc.identifier.citedreferenceFisher ER, Hayden MR. 2014. Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk. Mov Disord 29: 105 – 114.en_US
dc.identifier.citedreferenceGoldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E, Heiberg A, Wolff G, Hayden M. 1993. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet 5: 174 – 179.en_US
dc.identifier.citedreferenceGoldberg YP, McMurray CT, Zeisler J, Almqvist E, Sillence D, Richards F, Gacy AM, Buchanan J, Telenius H, Hayden MR. 1995. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 4: 1911 – 1918.en_US
dc.identifier.citedreferenceHuntington's Disease Collaborative Research Group. 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell 72: 971 – 983.en_US
dc.identifier.citedreferenceKotzot D. 2008. Complex and segmental uniparental disomy updated. J Med Genet 45: 545 – 556.en_US
dc.identifier.citedreferenceKremer B, Goldberg P, Andrew SE, Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E, Bird TD, Hayden MR. 1994. A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 330: 1401 – 1406.en_US
dc.identifier.citedreferenceKremer B, Almqvist E, Theilmann J, Spence N, Telenius H, Goldberg YP, Hayden MR. 1995. Sex‐dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 57: 343 – 350.en_US
dc.identifier.citedreferenceKuchinka BD, Barrett IJ, Moya G, Sanchez JM, Langlois S, Yong SL, Kalousek DK, Robinson WP. 2001. Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy. Prenat Diagn 21: 36 – 39.en_US
dc.identifier.citedreferenceLaccone F, Engel U, Holinski‐Feder E, Weigell‐Weber M, Marczinek K, Nolte D, Morris‐Rosendahl DJ, Zuhlke C, Fuchs K, Weirich‐Schwaiger H, Schluter G, von Beust G, Vieira‐Saecker AM, Weber BH, Riess O. 1999. DNA analysis of Huntington's disease: five years of experience in Germany, Austria and Switzerland Neurology 53: 801 – 806.en_US
dc.identifier.citedreferenceLaccone F, Christian W. 2000. A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. Am J Hum Genet 66: 1145 – 1148.en_US
dc.identifier.citedreferenceLee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez‐Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint‐Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, PREDICT‐HD study of the Huntington Study Group (HSG), Landwehrmeyer GB, REGISTRY study of the European Huntington's Disease Network, Myers RH, HD‐MAPS Study Group, MacDonald ME, Gusella JF, COHORT study of the HSG. 2012 CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion Neurology 78: 690 – 695.en_US
dc.identifier.citedreferenceLindor NM. 2009. Hereditary colorectal cancer: MYH‐associated polyposis and other newly identified disorders. Best Pract Res Clin Gastroenterol 23: 75 – 87.en_US
dc.identifier.citedreferenceMaat‐Kievit A, Losekoot M, Van Den Boer‐Van Den Berg H, Van Ommen GJ, Niermeijer M, Breuning M, Tibben A. 2001a. New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles. J Med Genet 38: 1 – 5.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.