DOI QR코드

DOI QR Code

Chromosome 11q13 deletion syndrome

  • Kim, Yu-Seon (Department of Pediatrics, Korea University College of Medicine) ;
  • Kim, Gun-Ha (Department of Pediatrics, Korea University College of Medicine) ;
  • Byeon, Jung Hye (Department of Pediatrics, Korea University College of Medicine) ;
  • Eun, So-Hee (Department of Pediatrics, Korea University College of Medicine) ;
  • Eun, Baik-Lin (Department of Pediatrics, Korea University College of Medicine)
  • Received : 2014.08.28
  • Accepted : 2014.10.20
  • Published : 2016.11.15

Abstract

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

Keywords

References

  1. Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, et al. SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. Hum Mol Genet 2007;16:2482-93. https://doi.org/10.1093/hmg/ddm204
  2. Bloch-Zupan A, Goodman JR. Otodental syndrome. Orphanet J Rare Dis 2006;1:5. https://doi.org/10.1186/1750-1172-1-5
  3. Torun D, Guran S, Karahatay S, Torun ZO, Gerek M, Bahce M. A case with neurosensorial hearing loss and anodonty findings: Is this a variant of otodental syndrome? Turkiye Klinikleri J Med Sci 2010;30:387-91. https://doi.org/10.5336/medsci.2008-7609
  4. Sedano HO, Moreira LC, de Souza RA, Moleri AB. Otodental syndrome: a case report and genetic considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2001;92:312-7. https://doi.org/10.1067/moe.2001.116818
  5. Chen RJ, Chen HS, Lin LM, Lin CC, Jorgenson RJ. "Otodental" dysplasia. Oral Surg Oral Med Oral Pathol 1988;66:353-8. https://doi.org/10.1016/0030-4220(88)90245-9
  6. Van Doorne L, Wackens G, De Maeseneer M, Deron P. Otodental syndrome. A case report. Int J Oral Maxillofac Surg 1998;27:121-4. https://doi.org/10.1016/S0901-5027(98)80309-3
  7. Santos-Pinto L, Oviedo MP, Santos-Pinto A, Iost HI, Seale NS, Reddy AK. Otodental syndrome: three familial case reports. Pediatr Dent 1998;20:208-11.
  8. Levin LS, Jorgenson RJ. Otodental dysplasia: a previously undescribed syndrome. Birth Defects 1974;10:310-2.
  9. Levin LS, Jorgenson RJ, Cook RA. Otodental dysplasia: a "new" ectodermal dysplasia. Clin Genet 1975;8:136-44.
  10. Denes J, Csiba A. An unusual case of hereditary developmental anomalies of the cuspids and molars. Fogorv Sz 1969;62:208-12.
  11. Winter GB. The association of ocular defects with the otodental syndrome. J Int Assoc Dent Child 1983;14:83-7.
  12. Tekin M, Ozturkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroglu L, et al. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet 2008;73:554-65. https://doi.org/10.1111/j.1399-0004.2008.01004.x
  13. Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner WD, Bodamer O, et al. A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope 2010;120:359-64.
  14. Wischmeijer A, Magini P, Giorda R, Gnoli M, Ciccone R, Cecconi L, et al. Olfactory receptor-related duplicons mediate a microdeletion at 11q13.2q13.4 associated with a syndromic phenotype. Mol Syndromol 2011;1:176-184.
  15. Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 2010;42:489-91. https://doi.org/10.1038/ng.589