Journal of Genetic Medicine

  • 제17권2호
  • /
  • Pages.83-88
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  • 2020
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7

  • Kang, Yoongu (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Kim, Jinsup (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Lee, Hyun Ju (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Park, Hyun Kyung (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine)
  • 투고 : 2020.05.30
  • 심사 : 2020.07.24
  • 발행 : 2020.12.31
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초록

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed according to a clinical scoring system; however, the clinical diagnosis is confirmed with molecular testing, and the disease is stratified into the specific molecular subtypes. SRS is a genetically heterogeneous condition. The major molecular changes are hypomethylation of imprinting control region 1 in 11p15.5 and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Therefore, first-line molecular testing should include methylation-specific approaches for these regions. Here, we report an extremely low birth weight (ELBW) infant with intrauterine growth retardation, postnatal growth retardation, and dysmorphic facial appearance-characteristics consistent with the clinical diagnostic criteria of SRS. Methylation-specific molecular genetic analysis revealed UPD(7)mat, while the loss of heterozygosity was not detected on chromosomal microarray analysis. We present a case of SRS with suspected uniparental heterodisomy of chromosome 7 in an ELBW infant.

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참고문헌

  1. Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 2017;13:105-24. https://doi.org/10.1038/nrendo.2016.138
  2. Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in SilverRussell syndrome. J Med Genet 2015;52:446-53. https://doi.org/10.1136/jmedgenet-2014-102979
  3. Eggermann T, Begemann M, Binder G, Spengler S. Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis 2010;5:19. https://doi.org/10.1186/1750-1172-5-19
  4. Kim Y, Kim SS, Kim G, Park S, Park IS, Yoo HW. Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays. Clin Genet 2005;67:267-9. https://doi.org/10.1111/j.1399-0004.2004.00387.x
  5. Fenton TR, Kim JH. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants. BMC Pediatr 2013;13:59. https://doi.org/10.1186/1471-2431-13-59
  6. Korean Society of Pediatric Endocrinology. Pediatric Endocrinology. 3rd ed. Seoul: Koonja; 2014.
  7. Suhag A, Berghella V. Intrauterine growth restriction (IUGR): etiology and diagnosis. Curr Obstet Gynecol Rep 2013;2:102-11. https://doi.org/10.1007/s13669-013-0041-z
  8. Sharma D, Shastri S, Farahbakhsh N, Sharma P. Intrauterine growth restriction - part 1. J Matern Fetal Neonatal Med 2016;29:3977-87. https://doi.org/10.3109/14767058.2016.1152249
  9. Stalman SE, Solanky N, Ishida M, Aleman-Charlet C, Abu-Amero S, Alders M, et al. Genetic analyses in small-for-gestational-age newborns. J Clin Endocrinol Metab 2018;103:917-25. https://doi.org/10.1210/jc.2017-01843
  10. Silver HK, Gruskay FL. Syndrome of congenital hemihypertrophy and elevated urinary gonadotropins; occurrence in a seven-year-old boy. AMA J Dis Child 1957;93:559-62. https://doi.org/10.1001/archpedi.1957.02060040561011
  11. Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954;47:1040-4.
  12. Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet 2010;154C:355-64. https://doi.org/10.1002/ajmg.c.30274
  13. Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T. Next generation sequencing and imprinting disorders: current applications and future perspectives: lessons from Silver-Russell syndrome. Mol Cell Probes 2019;44:1-7. https://doi.org/10.1016/j.mcp.2018.12.007
  14. Liehr T. Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet 2010;3:8. https://doi.org/10.1186/1755-8166-3-8
  15. Kotzot D. Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups. Eur J Med Genet 2008;51:444-51. https://doi.org/10.1016/j.ejmg.2008.06.001
  16. Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet 2010;47:760-8. https://doi.org/10.1136/jmg.2010.079111
  17. Lee BH, Kim GH, Oh TJ, Kim JH, Lee JJ, Choi SH, et al. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. J Hum Genet 2013;58:604-10. https://doi.org/10.1038/jhg.2013.67
  18. Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L. Uniparental disomy: can SNP array data be used for diagnosis? Genet Med 2013;14:753-6. https://doi.org/10.1038/gim.2012.35
  19. Chantot-Bastaraud S, Stratmann S, Brioude F, Begemann M, Elbracht M, Graul-Neumann L, et al. Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. Mol Cytogenet 2017;10:28. https://doi.org/10.1186/s13039-017-0329-1
  20. Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ. Identification of the gene for Nance-Horan syndrome (NHS). J Med Genet 2004;41:768-71. https://doi.org/10.1136/jmg.2004.022517