DOI QR코드

DOI QR Code

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

  • Seo, Go Hun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Ja Hye (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Cho, Ja Hyang (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Seo, Eul-Ju (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 투고 : 2015.03.10
  • 심사 : 2015.05.11
  • 발행 : 2016.01.10

초록

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

키워드

참고문헌

  1. Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997;61:642-50. https://doi.org/10.1086/515520
  2. Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 2003;64:310-6. https://doi.org/10.1034/j.1399-0004.2003.00126.x
  3. Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008;121:404-10. https://doi.org/10.1542/peds.2007-0929
  4. Gajecka M, Mackay KL, Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145C:346-56. https://doi.org/10.1002/ajmg.c.30154
  5. Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, et al. Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia 2008;49:509-15. https://doi.org/10.1111/j.1528-1167.2007.01424.x
  6. Biegel JA, White PS, Marshall HN, Fujimori M, Zackai EH, Scher CD, et al. Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet 1993;52:176-82.
  7. D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, et al. Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. Am J Med Genet A 2010;152A:102-10. https://doi.org/10.1002/ajmg.a.33160
  8. D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, et al. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet 2006;49:451-60. https://doi.org/10.1016/j.ejmg.2006.02.001
  9. Sangu N, Shimojima K, Shimada S, Ando T, Yamamoto T. Growth patterns of patients with 1p36 deletion syndrome. Congenit Anom (Kyoto) 2014;54:82-6. https://doi.org/10.1111/cga.12029
  10. Stagi S, Lapi E, Pantaleo M, Chiarelli F, Seminara S, de Martino M. Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype. BMC Med Genet 2014;15:16.
  11. Zagalo A, Dias P, Pereira C, Sampaio Mde L. Morbid obesity in a child with monosomy 1p36 syndrome. BMJ Case Rep 2012 Mar 20;2012. pii: bcr0120125503.
  12. Chakraborty S, Joseph DV, Bankart MJ, Petersen SA, Wailoo MP. Fetal growth restriction: relation to growth and obesity at the age of 9 years. Arch Dis Child Fetal Neonatal Ed 2007;92:F479-83. https://doi.org/10.1136/adc.2006.109728
  13. Bettiol H, Sabbag Filho D, Haeffner LS, Barbieri MA, Silva AA, Portela A, et al. Do intrauterine growth restriction and overweight at primary school age increase the risk of elevated body mass index in young adults? Braz J Med Biol Res 2007;40:1237-43. https://doi.org/10.1590/S0100-879X2007000900011
  14. Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, et al. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. Brain Dev 2015;37:515-26. https://doi.org/10.1016/j.braindev.2014.08.002
  15. Garber KB, Visootsak J, Warren ST. Fragile X syndrome. Eur J Hum Genet 2008;16:666-72. https://doi.org/10.1038/ejhg.2008.61
  16. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 2003;72:1200-12. https://doi.org/10.1086/375179
  17. Buck A, du Souich C, Boerkoel CF. Minimal genotype--phenotype correlation for small deletions within distal 1p36. Am J Med Genet A 2011;155A:3164-9.
  18. Colmenares C, Heilstedt HA, Shaffer LG, Schwartz S, Berk M, Murray JC, et al. Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Nat Genet 2002;30:106-9. https://doi.org/10.1038/ng770
  19. Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. Am J Hum Genet 1998;63:347-59. https://doi.org/10.1086/301963
  20. Heilstedt HA, Burgess DL, Anderson AE, Chedrawi A, Tharp B, Lee O, et al. Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Epilepsia 2001;42:1103-11.
  21. Windpassinger C, Kroisel PM, Wagner K, Petek E. The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression. Gene 2002;292:25-31. https://doi.org/10.1016/S0378-1119(02)00649-2
  22. Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, et al. Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet 2005;13:139-49. https://doi.org/10.1038/sj.ejhg.5201302
  23. Redon R, Rio M, Gregory SG, Cooper RA, Fiegler H, Sanlaville D, et al. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? J Med Genet 2005;42:166-71. https://doi.org/10.1136/jmg.2004.023861

피인용 문헌

  1. Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome vol.2019, pp.None, 2019, https://doi.org/10.1155/2019/6753184
  2. Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation vol.11, pp.5, 2020, https://doi.org/10.1159/000510428
  3. Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center vol.14, pp.None, 2016, https://doi.org/10.2147/ijgm.s335011