Exportar registro bibliográfico


Metrics:

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause (2018)

  • Authors:
  • USP affiliated authors: KREPISCHI, ANA CRISTINA VICTORINO - IB ; FURUYA, TATIANE KATSUE - FM ; BERTOLA, DÉBORA ROMEO - IB ; COSTA, SILVIA SOUZA DA - IB ; ROELA, ROSIMEIRE APARECIDA - FM ; KIM, CHONG AE - FM ; ROSENBERG, CARLA - IB ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
  • Unidades: IB; FM
  • DOI: 10.1159/000481777
  • Subjects: GENÉTICA; TRANSTORNOS DO CRESCIMENTO; DESENVOLVIMENTO HUMANO; ESTATURA; CROMOSSOMOS; ENDOCRINOLOGIA
  • Keywords: Short stature; Chromosomal microarray; Copy number variants; Recurrent copy number variants; Array-based comparative genomic hybridization; Single nucleotide polymorphism array
  • Language: Inglês
  • Imprenta:
  • Source:
  • Acesso à fonteDOI
    Informações sobre o DOI: 10.1159/000481777 (Fonte: oaDOI API)
    • Este periódico é de assinatura
    • Este artigo é de acesso aberto
    • URL de acesso aberto
    • Cor do Acesso Aberto: bronze

    How to cite
    A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas

    • ABNT

      HOMMA, Thais K; KREPISCHI, Ana C. V; FURUYA, Tatiane K; et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, Basel, v. 89, p. 13-21, 2018. Disponível em: < http://dx.doi.org/10.1159/000481777 > DOI: 10.1159/000481777.
    • APA

      Homma, T. K., Krepischi, A. C. V., Furuya, T. K., Honjo, R. S., Malaquias, A. C., Bertola, D. R., et al. (2018). Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, 89, 13-21. doi:10.1159/000481777
    • NLM

      Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone Research in Paediatrics. 2018 ; 89 13-21.Available from: http://dx.doi.org/10.1159/000481777
    • Vancouver

      Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone Research in Paediatrics. 2018 ; 89 13-21.Available from: http://dx.doi.org/10.1159/000481777

    Referências citadas na obra
    Oostdijk W, Grote FK, de Muinck Keizer-Schrama SM, Wit JM: Diagnostic approach in children with short stature. Horm Res 2009; 72: 206–217.
    Rogol AD, Hayden GF: Etiologies and early diagnosis of short stature and growth failure in children and adolescents. J Pediatr 2014; 164:S1–S14.e16.
    Argente J: Challenges in the management of short stature. Horm Res Paediatr 2016; 85: 2–10.
    Seaver LH, Irons M; Committee ACoMGAPPaG: ACMG practice guideline: genetic evaluation of short stature. Genet Med 2009; 11: 465–470.
    Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CA, Kant SG: Mechanisms in endocrinology: novel genetic causes of short stature. Eur J Endocrinol 2016; 174:R145–R173.
    Baron J, Sävendahl L, De Luca F, Dauber A, Phillip M, Wit JM, Nilsson O: Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol 2015; 11: 735–746.
    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749–764.
    Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT: Rare copy number variants are a common cause of short stature. PLoS Genet 2013; 9:e1003365.
    van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM: Copy number variants in patients with short stature. Eur J Hum Genet 2014; 22: 602–609.
    Canton AP, Costa SS, Rodrigues TC, Berto la DR, Malaquias AC, Correa FA, Arnhold IJ, Rosenberg C, Jorge AA: Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways. Eur J Endocrinol 2014; 171: 253–262.
    Wit JM, van Duyvenvoorde HA, van Klinken JB, Caliebe J, Bosch CA, Lui JC, Gijsbers AC, Bakker E, Breuning MH, Oostdijk W, Lo­sekoot M, Baron J, Binder G, Ranke MB, Rui­venkamp CA: Copy number variants in short children born small for gestational age. Horm Res Paediatr 2014; 82: 310–318.
    Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN: Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. Am J Hum Genet 2011; 89: 751–759.
    Canton AP, Nishi MY, Furuya TK, Roela RA, Jorge AA: Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: a case report and review of the literature. Am J Med Genet A 2016; 170A:1046–1049.
    MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW: The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 2014; 42:D986–D992.
    Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Committee WGotACoMGLQA: American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011; 13: 680–685.
    Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP: DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 2009; 84: 524–533.
    Stelzer G, Plaschkes I, Oz-Levi D, Alkelai A, Olender T, Zimmerman S, Twik M, Belinky F, Fishilevich S, Nudel R, Guan-Golan Y, Warshawsky D, Dahary D, Kohn A, Mazor Y, Kaplan S, Iny Stein T, Baris HN, Rappaport N, Safran M, Lancet D: VarElect: the phenotype-based variation prioritizer of the GeneCards Suite. BMC Genomics 2016; 17(suppl 2):444.
    Weise A, Mrasek K, Klein E, Mulatinho M, Llerena JC, Hardekopf D, Pekova S, Bhatt S, Kosyakova N, Liehr T: Microdeletion and microduplication syndromes. J Histochem Cytochem 2012; 60: 346–358.
    Torres F, Barbosa M, Maciel P: Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. J Med Genet 2016; 53: 73–90.
    20Zhang L, Yuan Y, Lu KH: Identification of recurrent focal copy number variations and their putative targeted driver genes in ovarian cancer. BMC Bioinformatics 2016; 17: 222.
    21Prakash S, Kuang SQ; GenTAC Registry Investigators, Regalado E, Guo D, Milewicz D: Recurrent rare genomic copy number variants and bicuspid aortic valve are enriched in early onset thoracic aortic aneurysms and dissections. PLoS One 2016; 11:e0153543.
    Burnside RD: 22q11.21 Deletion syndromes: a review of proximal, central, and distal deletions and their associated features. Cytogenet Genome Res 2015; 146: 89–99.
    Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS: Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med 2015; 17: 599–609.
    Klammt J, Kiess W, Pfäffle R: IGF1R mutations as cause of SGA. Best Pract Res Clin Endocrinol Metab 2011; 25: 191–206.
    O’Riordan AM, McGrath N, Sharif F, Murphy NP, Franklin O, Lynch SA, O’Grady MJ: Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance. Eur J Pediatr 2017; 176: 137–142.
    Poot M, Verrijn Stuart AA, van Daalen E, van Iperen A, van Binsbergen E, Hochstenbach R: Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases. Eur J Med Genet 2013; 56: 346–350.
    Ocaranza P, Golekoh MC, Andrew SF, Guo MH, Kaplowitz P, Saal H, Rosenfeld RG, Dauber A, Cassorla F, Backeljauw PF, Hwa V: Expanding genetic and functional diagnoses of IGF1R haploinsufficiencies. Horm Res Paediatr 2017; 87: 412–422.
    Soellner L, Spengler S, Begemann M, Wollmann HA, Binder G, Eggermann T: IGF1R mutation analysis in short children with Silver-Russell syndrome features. J Pediatr Genet 2013; 2: 113–117.
    Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB: SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf) 2007; 66: 130–135.
    Fukami M, Seki A, Ogata T: SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature. Mol Syndromol 2016; 7: 3–11.
    Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group: Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J Hum Genet 2016; 61: 585–591.
    Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E: Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the “extended” phenotype. Gene 2012; 506: 360–368.
    Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium: Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med 2016; 18: 341–349.
    Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685–1699.
    Watanabe M, Hayabuchi Y, Ono A, Naruto T, Horikawa H, Kohmoto T, Masuda K, Nakagawa R, Ito H, Kagami S, Imoto I: Detection of 1p36 deletion by clinical exome-first diagnostic approach. Hum Genome Var 2016; 3: 16006.
    Bello S, Rodríguez-Moreno A: An updated review of 1p36 deletion (monosomy) syndrome (in Spanish). Rev Chil Pediatr 2016; 87: 411–421.
    Hoffmann K, Heller R: Uniparental disomies 7 and 14. Best Pract Res Clin Endocrinol Metab 2011; 25: 77–100.
    Wakeling EL, Brioude F, Lokulo-Sodipe O, O’Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I: Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 2017; 13: 105–124.
    Herman TE, Siegel MJ: Miller-Dieker syndrome, type 1 lissencephaly. J Perinatol 2008; 28: 313–315.
    Magri C, Piovani G, Pilotta A, Michele T, Buzi F, Barlati S: De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia. Eur J Med Genet 2011; 54: 361–364.
    Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blümel P, Jauch A, Moog U, Zerres K, Eggermann T: Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. J Pediatr 2012; 161: 933–942.
    Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J: Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. J Med Genet 2010; 47: 816–822.
    Zhu H, Lin S, Huang L, He Z, Huang X, Zhou Y, Fang Q, Luo Y: Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction. Prenat Diagn 2016; 36: 686–692.
    Hu G, Fan Y, Wang L, Yao RE, Huang X, Shen Y, Yu Y, Gu X: Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray. Mol Cytogenet 2016; 9: 16.

Digital Library of Intellectual Production of Universidade de São Paulo     2012 - 2020