메뉴 건너뛰기




Volumn 19, Issue 5, 2011, Pages 547-554

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

Author keywords

15q13; Genotype phenotype; Microdeletion; Segmental duplication

Indexed keywords

ADOLESCENT; ARTICLE; BREAST DEVELOPMENT; CHILD; CHROMOSOME 15Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA FLANKING REGION; FAILURE TO THRIVE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HERITABILITY; HUMAN; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE;

EID: 79955761551     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.237     Document Type: Article
Times cited : (15)

References (48)
  • 1
    • 39549087017 scopus 로고    scopus 로고
    • Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes
    • Makoff AJ, Flomen RH: Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol 2007; 8: R114.
    • (2007) Genome Biol , vol.8
    • Makoff, A.J.1    Flomen, R.H.2
  • 3
    • 0029011991 scopus 로고
    • Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
    • Christian SL, Robinson WP, Huang B et al: Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 1995; 57: 40-48.
    • (1995) Am J Hum Genet , vol.57 , pp. 40-48
    • Christian, S.L.1    Robinson, W.P.2    Huang, B.3
  • 4
    • 0031946990 scopus 로고    scopus 로고
    • Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
    • DOI 10.1086/301777
    • Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S: Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet 1998; 62: 925-936. (Pubitemid 28194335)
    • (1998) American Journal of Human Genetics , vol.62 , Issue.4 , pp. 925-936
    • Wandstrat, A.E.1    Leana-Cox, J.2    Jenkins, L.3    Schwartz, S.4
  • 5
    • 3242710286 scopus 로고    scopus 로고
    • High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
    • DOI 10.1086/422854
    • Wang NJ, Liu D, Parokonny AS, Schanen NC: High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 2004; 75: 267-281. (Pubitemid 38943870)
    • (2004) American Journal of Human Genetics , vol.75 , Issue.2 , pp. 267-281
    • Wang, N.J.1    Liu, D.2    Parokonny, A.S.3    Schanen, N.C.4
  • 7
    • 68049129849 scopus 로고    scopus 로고
    • Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome
    • van Bon BW, Mefford HC, Menten B et al: Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009; 46: 511-523.
    • (2009) J Med Genet , vol.46 , pp. 511-523
    • Van Bon, B.W.1    Mefford, H.C.2    Menten, B.3
  • 11
    • 60849125859 scopus 로고    scopus 로고
    • Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
    • Ballif BC, Theisen A, Coppinger J et al: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 2008; 1: 8.
    • (2008) Mol Cytogenet , vol.1 , pp. 8
    • Ballif, B.C.1    Theisen, A.2    Coppinger, J.3
  • 12
    • 77958486211 scopus 로고    scopus 로고
    • Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
    • Duker AL, Ballif BC, Bawle EV et al: Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet 2010; 18: 1196-1201.
    • (2010) Eur J Hum Genet , vol.18 , pp. 1196-1201
    • Duker, A.L.1    Ballif, B.C.2    Bawle, E.V.3
  • 13
    • 53949084425 scopus 로고    scopus 로고
    • Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
    • Ballif BC, Theisen A, McDonald-McGinn DM et al: Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet 2008; 74: 469-475.
    • (2008) Clin Genet , vol.74 , pp. 469-475
    • Ballif, B.C.1    Theisen, A.2    McDonald-McGinn, D.M.3
  • 14
    • 69449100160 scopus 로고    scopus 로고
    • Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: Case report
    • Traylor RN, Fan Z, Hudson B et al: Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: Case report. Mol Cytogenet 2009; 2: 17.
    • (2009) Mol Cytogenet , vol.2 , pp. 17
    • Traylor, R.N.1    Fan, Z.2    Hudson, B.3
  • 16
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford HC, Sharp AJ, Baker C et al: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685-1699.
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3
  • 17
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri N, Berg JS, Scaglia F et al: Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008; 40: 1466-1471.
    • (2008) Nat Genet , vol.40 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3
  • 18
    • 67449114040 scopus 로고    scopus 로고
    • Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
    • Ben-Shachar S, Lanpher B, German JR et al: Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 2009; 46: 382-388.
    • (2009) J Med Genet , vol.46 , pp. 382-388
    • Ben-Shachar, S.1    Lanpher, B.2    German, J.R.3
  • 19
  • 20
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    • Helbig I, Mefford HC, Sharp AJ et al: 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009; 41: 160-162.
    • (2009) Nat Genet , vol.41 , pp. 160-162
    • Helbig, I.1    Mefford, H.C.2    Sharp, A.J.3
  • 22
    • 67349083547 scopus 로고    scopus 로고
    • Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
    • Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH et al: Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 2009; 52: 77-87.
    • (2009) Eur J Med Genet , vol.52 , pp. 77-87
    • Bijlsma, E.K.1    Gijsbers, A.C.2    Schuurs-Hoeijmakers, J.H.3
  • 23
    • 70350626873 scopus 로고    scopus 로고
    • Microduplications of 16p11.2 are associated with schizophrenia
    • McCarthy SE, Makarov V, Kirov G et al: Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41: 1223-1227.
    • (2009) Nat Genet , vol.41 , pp. 1223-1227
    • McCarthy, S.E.1    Makarov, V.2    Kirov, G.3
  • 24
    • 85128251104 scopus 로고    scopus 로고
    • Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11 2 microdeletions and microduplications
    • Rosenfeld JA, Coppinger J, Bejjani BA et al: Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11 2 microdeletions and microduplications. J Neurodevelop Disord 2010; 2: 26-38.
    • (2010) J Neurodevelop Disord , vol.2 , pp. 26-38
    • Rosenfeld, J.A.1    Coppinger, J.2    Bejjani, B.A.3
  • 25
    • 68649123353 scopus 로고    scopus 로고
    • Duplication hotspots, rare genomic disorders, and common disease
    • Mefford HC, Eichler EE: Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 2009; 19: 196-204.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 196-204
    • Mefford, H.C.1    Eichler, E.E.2
  • 26
    • 0031465172 scopus 로고    scopus 로고
    • Mints, munc18-interacting proteins in synaptic vesicle exocytosis
    • DOI 10.1074/jbc.272.50.31459
    • Okamoto M, Sudhof TC: Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. J Biol Chem 1997; 272: 31459-31464. (Pubitemid 28013285)
    • (1997) Journal of Biological Chemistry , vol.272 , Issue.50 , pp. 31459-31464
    • Okamoto, M.1    Sudhof, T.C.2
  • 27
    • 66449083658 scopus 로고    scopus 로고
    • Interaction of Mint2 with TrkA is involved in regulation of nerve growth factor-induced neurite outgrowth
    • Zhang Y, Wang YG, Zhang Q et al: Interaction of Mint2 with TrkA is involved in regulation of nerve growth factor-induced neurite outgrowth. J Biol Chem 2009; 284: 12469-12479.
    • (2009) J Biol Chem , vol.284 , pp. 12469-12479
    • Zhang, Y.1    Wang, Y.G.2    Zhang, Q.3
  • 28
    • 65949092300 scopus 로고    scopus 로고
    • X11-like protein deficiency is associated with impaired conflict resolution in mice
    • Sano Y, Ornthanalai VG, Yamada K et al: X11-like protein deficiency is associated with impaired conflict resolution in mice. J Neurosci 2009; 29: 5884-5896.
    • (2009) J Neurosci , vol.29 , pp. 5884-5896
    • Sano, Y.1    Ornthanalai, V.G.2    Yamada, K.3
  • 29
    • 58149095671 scopus 로고    scopus 로고
    • X11 proteins regulate the translocation of amyloid betaprotein precursor (APP) into detergent-resistant membrane and suppress the amyloidogenic cleavage of APP by beta-site-cleaving enzyme in brain
    • Saito Y, Sano Y, Vassar R et al: X11 proteins regulate the translocation of amyloid betaprotein precursor (APP) into detergent-resistant membrane and suppress the amyloidogenic cleavage of APP by beta-site-cleaving enzyme in brain. J Biol Chem 2008; 283: 35763-35771.
    • (2008) J Biol Chem , vol.283 , pp. 35763-35771
    • Saito, Y.1    Sano, Y.2    Vassar, R.3
  • 30
    • 40949099049 scopus 로고    scopus 로고
    • Organization of multiprotein complexes at cell-cell junctions
    • Ebnet K: Organization of multiprotein complexes at cell-cell junctions. Histochem Cell Biol 2008; 130: 1-20.
    • (2008) Histochem Cell Biol , vol.130 , pp. 1-20
    • Ebnet, K.1
  • 31
    • 34547680377 scopus 로고    scopus 로고
    • Identification, tissue distribution and developmental expression of tjp1/zo-1, tjp2/zo-2 and tjp3/zo-3 in the zebrafish, Danio rerio
    • DOI 10.1016/j.modgep.2007.05.006, PII S1567133X07000634
    • Kiener TK, Sleptsova-Friedrich I, Hunziker W: Identification, tissue distribution and developmental expression of tjp1/zo-1, tjp2/zo-2 and tjp3/zo-3 in the zebrafish, Danio rerio. Gene Expr Patterns 2007; 7: 767-776. (Pubitemid 47209493)
    • (2007) Gene Expression Patterns , vol.7 , Issue.7 , pp. 767-776
    • Kiener, T.K.1    Sleptsova-Friedrich, I.2    Hunziker, W.3
  • 32
    • 48649096603 scopus 로고    scopus 로고
    • Deficiency of zonula occludens-1 causes embryonic lethal phenotype associated with defected yolk sac angiogenesis and apoptosis of embryonic cells
    • Katsuno T, Umeda K, Matsui T et al: Deficiency of zonula occludens-1 causes embryonic lethal phenotype associated with defected yolk sac angiogenesis and apoptosis of embryonic cells. Mol Biol Cell 2008; 19: 2465-2475.
    • (2008) Mol Biol Cell , vol.19 , pp. 2465-2475
    • Katsuno, T.1    Umeda, K.2    Matsui, T.3
  • 33
    • 18744405462 scopus 로고    scopus 로고
    • A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: Expression, imprinting, and mapping of the human and mouse orthologues
    • Chibuk TK, Bischof JM, Wevrick R: A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: Expression, imprinting, and mapping of the human and mouse orthologues. BMC Genet 2001; 2: 22.
    • (2001) BMC Genet , vol.2 , pp. 22
    • Chibuk, T.K.1    Bischof, J.M.2    Wevrick, R.3
  • 34
    • 38949143250 scopus 로고    scopus 로고
    • Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex
    • DOI 10.1128/MCB.00767-07
    • Taylor EM, Copsey AC, Hudson JJ, Vidot S, Lehmann AR: Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. Mol Cell Biol 2008; 28: 1197-1206. (Pubitemid 351214123)
    • (2008) Molecular and Cellular Biology , vol.28 , Issue.4 , pp. 1197-1206
    • Taylor, E.M.1    Copsey, A.C.2    Hudson, J.J.R.3    Vidot, S.4    Lehmann, A.R.5
  • 35
    • 0035704937 scopus 로고    scopus 로고
    • A 3-Mb map of a large segmental duplication overlapping the α7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14
    • DOI 10.1006/geno.2002.6694
    • Riley B, Williamson M, Collier D, Wilkie H, Makoff A: A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. Genomics 2002; 79: 197-209. (Pubitemid 34124023)
    • (2001) Genomics , vol.79 , Issue.2 , pp. 197-209
    • Riley, B.1    Williamson, M.2    Collier, D.3    Wilkie, H.4    Makoff, A.5
  • 36
    • 70649089208 scopus 로고    scopus 로고
    • A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
    • Shinawi M, Schaaf CP, Bhatt SS et al: A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet 2009; 41: 1269-1271.
    • (2009) Nat Genet , vol.41 , pp. 1269-1271
    • Shinawi, M.1    Schaaf, C.P.2    Bhatt, S.S.3
  • 37
    • 67651208215 scopus 로고    scopus 로고
    • Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia
    • Feher A, Juhasz A, Rimanoczy A, Csibri E, Kalman J, Janka Z: Association between a genetic variant of the alpha-7 nicotinic acetylcholine receptor subunit and four types of dementia. Dement Geriatr Cogn Disord 2009; 28: 56-62.
    • (2009) Dement Geriatr Cogn Disord , vol.28 , pp. 56-62
    • Feher, A.1    Juhasz, A.2    Rimanoczy, A.3    Csibri, E.4    Kalman, J.5    Janka, Z.6
  • 38
    • 69249212165 scopus 로고    scopus 로고
    • A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia
    • Sinkus ML, Lee MJ, Gault J et al: A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia. Brain Res 2009; 1291: 1-11.
    • (2009) Brain Res , vol.1291 , pp. 1-11
    • Sinkus, M.L.1    Lee, M.J.2    Gault, J.3
  • 40
    • 62649088108 scopus 로고    scopus 로고
    • Population analysis of large copy number variants and hotspots of human genetic disease
    • Itsara A, Cooper GM, Baker C et al: Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148-161.
    • (2009) Am J Hum Genet , vol.84 , pp. 148-161
    • Itsara, A.1    Cooper, G.M.2    Baker, C.3
  • 41
    • 69749121852 scopus 로고    scopus 로고
    • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
    • Shaikh TH, Gai X, Perin JC et al: High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Genome Res 2009; 19: 1682-1690.
    • (2009) Genome Res , vol.19 , pp. 1682-1690
    • Shaikh, T.H.1    Gai, X.2    Perin, J.C.3
  • 42
    • 64549147485 scopus 로고    scopus 로고
    • Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
    • Kirov G, Grozeva D, Norton N et al: Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 2009; 18: 1497-1503.
    • (2009) Hum Mol Genet , vol.18 , pp. 1497-1503
    • Kirov, G.1    Grozeva, D.2    Norton, N.3
  • 43
    • 38449122025 scopus 로고    scopus 로고
    • Copy-number variation in control population cohorts
    • Spec
    • Pinto D, Marshall C, Feuk L, Scherer SW: Copy-number variation in control population cohorts. Hum Mol Genet 2007; 16: Spec No. 2: R168-R173.
    • (2007) Hum Mol Genet , vol.16 , Issue.2
    • Pinto, D.1    Marshall, C.2    Feuk, L.3    Scherer, S.W.4
  • 44
    • 54549093676 scopus 로고    scopus 로고
    • The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion
    • Flomen RH, Davies AF, Di Forti M et al: The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion. Eur J Hum Genet 2008; 16: 1364-1371.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1364-1371
    • Flomen, R.H.1    Davies, A.F.2    Di Forti, M.3
  • 45
    • 58349084640 scopus 로고    scopus 로고
    • Common inversion polymorphisms and rare microdeletions at 15q13.3
    • Makoff A, Flomen R: Common inversion polymorphisms and rare microdeletions at 15q13.3. Eur J Hum Genet 2009; 17: 149-150.
    • (2009) Eur J Hum Genet , vol.17 , pp. 149-150
    • Makoff, A.1    Flomen, R.2
  • 47
    • 65949085347 scopus 로고    scopus 로고
    • Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
    • Miller DT, Shen Y, Weiss LA et al: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 2009; 46: 242-248.
    • (2009) J Med Genet , vol.46 , pp. 242-248
    • Miller, D.T.1    Shen, Y.2    Weiss, L.A.3
  • 48
    • 77954383882 scopus 로고    scopus 로고
    • A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
    • Baroy T, Misceo D, Braaten O et al: A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. Eur J Med Genet 2010; 53: 221-224.
    • (2010) Eur J Med Genet , vol.53 , pp. 221-224
    • Baroy, T.1    Misceo, D.2    Braaten, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.