Access the full text.
Sign up today, get DeepDyve free for 14 days.
J. Martsolf, L. Larson, S. Jalal, W. Wasdahl, R. Miller, M. Kukolich (1988)
Complete trisomy 17p a relatively new syndrome.Annales de genetique, 31 3
Ann Smith, L. Mcgavran, Jeannie Robinson, Gail Waldstein, J. Macfarlane, Jon Zonona, J. Reiss, Martin Lahr, Leland Allen, E. Magenis, J. Opitz, J. Reynolds (1986)
Interstitial deletion of (17)(p11.2p11.2) in nine patients.American journal of medical genetics, 24 3
I. Darboux, E. Lingueglia, G. Champigny, S. Coscoy, P. Barbry, M. Lazdunski (1998)
dGNaC1, a Gonad-specific Amiloride-sensitive Na+Channel*The Journal of Biological Chemistry, 273
P. Stankiewicz, Christine Shaw, Jason Dapper, K. Wakui, L. Shaffer, Marjorie Withers, L. Elizondo, Sung-Sup Park, J. Lupski (2003)
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.American journal of human genetics, 72 5
Z. Docherty, M. Hultén, M. Honeyman (1983)
De novo tandem duplication 17p11 leads to cen.Journal of medical genetics, 20 2
S. Roberts, N. Dennis, C. Browne, L. Willatt, G. Woods, I. Cross, P. Jacobs, S. Thomas (2002)
Characterisation of interstitial duplications and triplications of chromosome 15q11–q13Human Genetics, 110
P. James, S. Aftimos, P. Oei (2004)
Partial tetrasomy 15 due to a unique inverted triplication of chromosome15q24‐q26American Journal of Medical Genetics Part A, 130A
M. Balarin, V. Lopes, M. Varella-Garcia (1999)
A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome.American journal of medical genetics, 82 2
Bartsch-Sandhoff (1979)
Partial duplication of 17p. A new chromosomal syndromeHum Genet, 49
M. Ettaiche, N. Guy, P. Hofman, M. Lazdunski, R. Waldmann (2004)
Acid-Sensing Ion Channel 2 Is Important for Retinal Function and Protects against Light-Induced Retinal DegenerationThe Journal of Neuroscience, 24
M. Venturin, P. Guarnieri, F. Natacci, M. Stabile, R. Tenconi, M. Clementi, C. Hernández, P. Thompson, M. Upadhyaya, L. Larizza, P. Riva (2004)
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2Journal of Medical Genetics, 41
W. Palutke, Harold Chen, Paul Woolley, C. Espiritu, H. Vogel, N. Gohle, M. Tyrkus (1976)
An extra small metacentric chromosome identified as a deleted chromosome No. 17Clinical Genetics, 9
C. Vlangos, Meredith Wilson, J. Blancato, Ann Smith, S. Elsea (2005)
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 geneAmerican Journal of Medical Genetics Part A, 132A
J. Saugstad, J. Roberts, Jinjiao Dong, Suzanne Zeitouni, R. Evans (2004)
Analysis of the Membrane Topology of the Acid-sensing Ion Channel 2a*Journal of Biological Chemistry, 279
K. Reddy, James Logan (2000)
Intrachromosomal triplications: molecular cytogenetic and clinical studiesClinical Genetics, 58
P. Riva, L. Corrado, F. Natacci, P. Castorina, Bai-Li Wu, G. Schneider, Maurizio Clementi, R. Tenconi, B. Korf, L. Larizza (2000)
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.American journal of human genetics, 66 1
H. Eckel, R. Wimmer, M. Volleth, S. Jakubiczka, P. Muschke, P. Wieacker (2006)
Intrachromosomal triplication 12p11.22–p12.3 and gonadal mosaicism of partial tetrasomy 12p , **American Journal of Medical Genetics Part A, 140A
A. Singleton, M. Farrer, J. Johnson, A. Singleton, S. Hague, J. Kachergus, M. Hulihan, T. Peuralinna, A. Dutra, R. Nussbaum, S. Lincoln, A. Crawley, M. Hanson, D. Maraganore, C. Adler, Michael Cookson, M. Muenter, M. Baptista, D. Miller, J. Blancato, J. Hardy, K. Gwinn‐Hardy (2003)
α-Synuclein Locus Triplication Causes Parkinson's DiseaseScience, 302
C. Vlangos, Dwight Yim, S. Elsea (2003)
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?Molecular genetics and metabolism, 79 2
Twila Yobb, M. Somerville, L. Willatt, H. Firth, K. Harrison, J. MacKenzie, N. Gallo, B. Morrow, L. Shaffer, M. Babcock, J. Chernos, F. Bernier, K. Sprysak, J. Christiansen, Shelagh Haase, B. Elyas, M. Lilley, S. Bamforth, H. McDermid (2005)
Microduplication and triplication of 22q11.2: a highly variable syndrome.American journal of human genetics, 76 5
J. Lupski, R. Oca-Luna, S. Slaugenhaupt, L. Pentao, V. Guzzetta, B. Trask, O. Saucedo-Cárdenas, D. Barker, J. Killian, Carlos Garcia, A. Chakravarti, P. Patel (1991)
DNA duplication associated with Charcot-Marie-Tooth disease type 1ACell, 66
C. Vlangos, Dwight Yim, S. Elsea (2003)
Refinement of the Smith–Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally?Molecular Genetics and Metabolism, 79
C. Lücking, V. Bonifati, Magali Periquet, N. Vanacore, A. Brice, G. Meco (2001)
Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutationsNeurology, 57
J. Cowell, N. Nowak (2003)
High-resolution analysis of genetic events in cancer cells using bacterial artificial chromosome arrays and comparative genome hybridization.Advances in cancer research, 90
S. Kellenberger, I. Gautschi, L. Schild (1999)
A single point mutation in the pore region of the epithelial Na+ channel changes ion selectivity by modifying molecular sieving.Proceedings of the National Academy of Sciences of the United States of America, 96 7
L. Potocki, Ken-Shiung Chen, Sung-Sup Park, D. Osterholm, Marjorie Withers, V. Kimonis, A. Summers, W. Meschino, K. Anyane-Yeboa, C. Kashork, L. Shaffer, J. Lupski (2000)
Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletionNature Genetics, 24
S. Girirajan, C. Vlangos, B. Szomju, Emily Edelman, Christopher Trevors, L. Dupuis, M. Nezarati, D. Bunyan, S. Elsea (2006)
Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrumGenetics in Medicine, 8
A. Brown, M. Phelan, S. Patil, E. Crawford, R. Rogers, C. Schwartz (1996)
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?American journal of medical genetics, 63 2
C. Kozma, J. Meck, K. Loomis, Hugo Galindo (1991)
De novo duplication of 17p [dup(17)(p12----p11.2)]: report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects.American journal of medical genetics, 41 4
Simpson Ca (1964)
PURFICATION OF A GENE.The Lancet, 1
M. Schneider, C. Hughes, S. Forrester, V. Kimonis (2000)
Mild phenotype due to tandem duplication of l7p11.2.American journal of medical genetics, 94 4
G. Feldman, J. Baumer, R. Sparkes (1982)
The dup(17p) syndromeAmerican Journal of Medical Genetics, 11
J. Batanian, X. Chen, D. Grange (1994)
Mosaic isodicentric chromosome 9 with triplication (9p22-pter) and no deletion in an abnormal infant presenting with clinical features of trisomy 9; a new type of isodicentric chromosome formationAmerican Journal of Human Genetics, 55
J. Wemmie, Jianguo Chen, C. Askwith, A. Hruska-Hageman, M. Price, B. Nolan, Patrick Yoder, E. Lamani, T. Hoshi, J. Freeman, M. Welsh (2002)
The Acid-Activated Ion Channel ASIC Contributes to Synaptic Plasticity, Learning, and MemoryNeuron, 34
J. Wang, K. Reddy, E. Wang, L. Halderman, B. Morgan, R. Lachman, H. Lin, M. Cornford (1999)
Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.American journal of medical genetics, 82 4
R. Waldmann, N. Voilley, M. Mattei, M. Lazdunski (1996)
The human degenerin MDEG, an amiloride-sensitive neuronal cation channel, is localized on chromosome 17q11.2-17q12 close to the microsatellite D17S798.Genomics, 37 2
V. McKusick (1972)
Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis.Lancet, 1 7758
P. Snyder, F. McDonald, J. Stokes, M. Welsh (1994)
Membrane topology of the amiloride-sensitive epithelial sodium channel.The Journal of biological chemistry, 269 39
P. Thomas, W. Marques, M. Davis, M. Sweeney, R. King, J. Bradley, J. Muddle, J. Tyson, S. Malcolm, A. Harding (1997)
The phenotypic manifestations of chromosome 17p11.2 duplication.Brain : a journal of neurology, 120 ( Pt 3)
R. Lucas, C. Vlangos, P. Das, P. Patel, S. Elsea (2001)
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.European journal of human genetics : EJHG, 9 12
R. Lucas, C. Vlangos, P. Das, P. Patel, S. Elsea (2001)
Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysisEuropean Journal of Human Genetics, 9
K. Harrison, I. Teshima, M. Silver, V. Jay, S. Unger, W. Robinson, A. James, A. Levin, D. Chitayat (1998)
Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.American journal of medical genetics, 79 2
B. Roa, F. Greenberg, P. Gunaratne, L. Shaffer, J. Lupski, C. Sauer, M. Lubinsky, C. Kozma, J. Meck, R. Magenis (1996)
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathyHuman Genetics, 97
Jennifer Lee, J. Lupski (2006)
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System DisordersNeuron, 52
Christine Shaw, P. Stankiewicz, J. Christodoulou, Ellie Smith, K. Jones, J. Lupski (2004)
A girl with duplication 17p10‐p12 associated with a dicentric chromosomeAmerican Journal of Medical Genetics Part A, 124A
G. Biagini, K. Babinski, M. Avoli, M. Marcinkiewicz, P. Séguéla (2001)
Regional and Subunit-Specific Downregulation of Acid-Sensing Ion Channels in the Pilocarpine Model of EpilepsyNeurobiology of Disease, 8
Maurizio Clementi, Luisa Notari, Adele Borghi, Romano Tenconi (1996)
Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance.American journal of medical genetics, 62 4
A. Singleton, M. Farrer, J. Johnson, A. Singleton, S. Hague, J. Kachergus, M. Hulihan, T. Peuralinna, A. Dutra, R. Nussbaum, S. Lincoln, A. Crawley, M. Hanson, D. Maraganore, C. Adler, M. Cookson, M. Muenter, M. Baptista, D. Miller, J. Blancato, J. Hardy, K. Gwinn‐Hardy (2003)
alpha-Synuclein locus triplication causes Parkinson's disease.Science, 302 5646
Z. Xiong, Xiao-man Zhu, X. Chu, M. Minami, Jessica Hey, Wenlin Wei, J. Macdonald, J. Wemmie, M. Price, M. Welsh, R. Simon (2004)
Neuroprotection in Ischemia Blocking Calcium-Permeable Acid-Sensing Ion ChannelsCell, 118
L. Brečević, S. Başaran, F. Dutly, B. Röthlisberger, A. Schinzel (2000)
Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girlJournal of Medical Genetics, 37
J. Mascarello, M. Jones, H. Hoyme, M. Freebury (1983)
Duplication (17p) in a child with an isodicentric (17p) chromosome.American journal of medical genetics, 14 1
Joseph Shieh, L. Hudgins, A. Cherry, Z. Shen, H. Hoyme (2006)
Triplication of 8p22–8p23 in a patient with features similar to Kabuki syndromeAmerican Journal of Medical Genetics Part A, 140A
K. Devriendt, G. Matthijs, M. Holvoet, E. Schoenmakers, J. Fryns (1999)
Triplication of distal chromosome 10qJournal of Medical Genetics, 36
S. Girirajan, L. Elsas, K. Devriendt, S. Elsea (2005)
RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletionsJournal of Medical Genetics, 42
S. Yatsenko, D. Treadwell-Deering, Kevin Krull, R. Lewis, D. Glaze, P. Stankiewicz, J. Lupski, L. Potocki (2005)
Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplicationsAmerican Journal of Medical Genetics Part A, 138A
N. Wolf, E. Sistermans, Maria Cundall, G. Hobson, Angelique Davis-Williams, R. Palmer, P. Stubbs, S. Davies, M. Endzinienė, Yvonne Wu, W. Chong, S. Malcolm, R. Surtees, J. Garbern, K. Woodward (2005)
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.Brain : a journal of neurology, 128 Pt 4
L. Bianchi, M. Driscoll (2002)
Protons at the Gate DEG/ENaC Ion Channels Help Us Feel and RememberNeuron, 34
K. Õunap, T. Ilus, O. Bartsch (2005)
A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndromeAmerican Journal of Medical Genetics Part A, 134A
R. Magenis, M. Brown, L. Allen, J. Reiss (1986)
De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.American journal of medical genetics, 24 3
W. Bi, G. Saifi, Christine Shaw, K. Walz, P. Fonseca, Meredith Wilson, L. Potocki, L. Potocki, J. Lupski, J. Lupski (2004)
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndromeHuman Genetics, 115
J. Pellegrino, J. Pellegrino, L. Pellegrino, N. Spinner, N. Spinner, J. Sladky, J. Sladky, P. Chance, P. Chance, E. Zackai, E. Zackai (1996)
Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.American journal of medical genetics, 61 4
M. Bartsch-Sandhoff, G. Hieronimi (1979)
Partial duplication of 17pHuman Genetics, 49
G. Feldman, J. Baumer, R. Sparkes (1982)
Brief clinical report: the dup(17p) syndrome.American journal of medical genetics, 11 3
MD LeGuern, MDJ5 Gouider, D. Mabin, BS Tardieu, MD Birouk, P. Parent, MD Bouche, MD Brice, Gouider E, Dr LeGuern (1997)
Patients homozygous for the 17p 11.2 duplication in charcot‐marie‐tooth type 1A DiseaseAnnals of Neurology, 41
R. Slager, T. Newton, C. Vlangos, B. Finucane, S. Elsea (2003)
Mutations in RAI1 associated with Smith–Magenis syndromeNature Genetics, 33
M. Upadhyaya, S. Roberts, J. Farnham, J. MacMillan, A. Clarke, J. Heath, I. Hodges, P. Harper (1993)
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12Human Genetics, 91
C. Maréchal, E. Masson, Jian-Min Chen, F. Morel, P. Ruszniewski, P. Lévy, C. Férec (2006)
Hereditary pancreatitis caused by triplication of the trypsinogen locusNature Genetics, 38
R. Waldmann, G. Champigny, N. Voilley, I. Lauritzen, M. Lazdunski (1996)
The Mammalian Degenerin MDEG, an Amiloride-sensitive Cation Channel Activated by Mutations Causing Neurodegeneration in Caenorhabditis elegans(*)The Journal of Biological Chemistry, 271
Z. Docherty, M. Hultén, M. Honeyman (1983)
De novo tandem duplication 17p11→cenJournal of Medical Genetics, 20
P. Chance, M. Alderson, K. Leppig, M. Lensch, N. Matsunami, Brooke Smith, P. Swanson, S. Odelberg, C. Disteche, T. Bird (1993)
DNA deletion associated with hereditary neuropathy with liability to pressure palsiesCell, 72
J. Verheij, K. Bouman, R. Lingen, J. Campagne, B. Leegte, A. Veen, R. Hofstra, C. Buys, A. Essen (1999)
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.American journal of medical genetics, 86 2
C. Schrander‐Stumpel, J. Schrander, J. Fryns, G. Hamers (1990)
Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literatureClinical Genetics, 37
Anita Rauch, Rudolf Pfeiffer, U. Trautmann (1996)
Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen‐related disordersClinical Genetics, 49
Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.Clin Genet 2007: 72: 47–58. © Blackwell Munksgaard, 2007Multiple congenital anomalies/mental retardation syndromes due to genomic rearrangements involving chromosome 17p11.2 include deletion resulting in Smith–Magenis syndrome and a reciprocal duplication of the same region resulting in the 17p11.2 duplication syndrome. We present the clinical and molecular analysis of an 8-year-old male with a dup(17p11.2p12) who was evaluated for unusual severity of the phenotype. Fluorescent in situ hybridization (FISH) analysis not only confirmed the 17p duplication but also identified an ∼25% mosaicism for tetrasomy 17p11.2p12. Whole-genome array comparative genomic hybridization (aCGH) was performed to identify other genomic rearrangements possibly contributing to the severe phenotype and the unusual features in the patient. The 17p duplication was determined by FISH and aCGH to encompass ∼7.5 Mb, from COX10 to KCNJ12. An ∼830 Kb deletion of 17q11.2q12, including exon 1 of an amiloride-sensitive cation channel neuronal gene, ACCN1, was also identified by aCGH; breakpoints of the deletion were confirmed by FISH. Sequencing the non-deleted allele of ACCN1 did not show any mutations. Western analysis of human tissue-specific proteins revealed that ACCN1 is expressed not only in the brain as previously reported but also in all tissues examined, including heart, liver, kidneys, and spleen. The large-sized 17p11.2p12 duplication, partial triplication of the same region, and the 17q11.2q12 deletion create a complex chromosome 17 rearrangement that has not been previously identified. This is the first case of triplication reported for this chromosome. Our study emphasizes the utility of whole-genome analysis for known cases with deletion/duplication syndromes with unusual or severe phenotypes.
Clinical Genetics – Wiley
Published: Jul 1, 2007
Keywords: ACCN1 ; aCGH; cardiac anomalies; 17p11.2p12 triplication; 17q11.2q12 deletion; 17p11.2p12 duplication; FISH; mental retardation; tetrasomy 17p11.2p12
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.