Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

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• 作者：Yi-Hsing Chen (1) (2)
  Ming-Hui Sun (1) (2)
  Shao-Hsuan Hsia (1) (3)
  Chi-Chun Lai (1) (2)
  Wei-Chi Wu (1) (2)
  
  1. Department of Ophthalmology ; Chang Gung Memorial Hospital ; No. 5 ; Fu-Hsing Street ; Kweishan ; Taoyuan ; 333 ; Taiwan
  2. College of Medicine ; Chang Gung University ; Taoyuan ; Taiwan
  3. Department of Pediatrics ; Chang Gung Memorial Hospital ; Taoyuan ; Taiwan
  
• 关键词：Kabuki syndrome ; Colobomatous microphthalmia ; Optic disc dysplasia ; MLL2 gene mutation
• 刊名：BMC Ophthalmology
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：14
• 期：1
• 全文大小：440 KB
• 参考文献：1. Niikawa, N, Matsuura, N, Fukushima, Y, Ohsawa, T, Kajii, T (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99: pp. 565-569 CrossRef
  2. Kuroki, Y, Suzuki, Y, Chyo, H, Hata, A, Matsui, I (1981) A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99: pp. 570-573 CrossRef
  3. Ming, JE, Russell, KL, Bason, L, McDonald-McGinn, DM, Zackai, EH (2003) Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J Med Genet A 123A: pp. 249-252 CrossRef
  4. Adam, MP, Hudgins, L (2005) Kabuki syndrome: a review. Clin Genet 67: pp. 209-219 CrossRef
  5. Matsumoto, N, Niikawa, N (2003) Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet 117C: pp. 57-65 CrossRef
  6. Hannibal, MC, Buckingham, KJ, Ng, SB, Ming, JE, Beck, AE, McMillin, MJ, Gildersleeve, HI, Bigham, AW, Tabor, HK, Mefford, HC, Cook, J, Yoshiura, K, Matsumoto, T, Matsumoto, N, Miyake, N, Tonoki, H, Naritomi, K, Kaname, T, Nagai, T, Ohashi, H, Kurosawa, K, Hou, JW, Ohta, T, Liang, D, Sudo, A, Morris, CA, Banka, S, Black, GC, Clayton-Smith, J, Nickerson, DA (2011) Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 155A: pp. 1511-1516 CrossRef
  7. Ng, SB, Bigham, AW, Buckingham, KJ, Hannibal, MC, McMillin, MJ, Gildersleeve, HI, Beck, AE, Tabor, HK, Cooper, GM, Mefford, HC, Lee, C, Turner, EH, Smith, JD, Rieder, MJ, Yoshiura, K, Matsumoto, N, Ohta, T, Niikawa, N, Nickerson, DA, Bamshad, MJ, Shendure, J (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42: pp. 790-793 CrossRef
  8. Paulussen, AD, Stegmann, AP, Blok, MJ, Tserpelis, D, Posma-Velter, C, Detisch, Y, Smeets, EE, Wagemans, A, Schrander, JJ, van den Boogaard, MJ, Van der Smagt, J, Van, HA, Stolte-Dijkstra, I, Kerstjens-Frederikse, WS, Mancini, GM, Wessels, MW, Hennekam, RC, Vreeburg, M, Geraedts, J, de Ravel, T, Fryns, JP, Smeets, HJ, Devriendt, K, Schrander-Stumpel, CT (2011) MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat 32: pp. E2018-E2025 CrossRef
  9. Evans, SL, Kumar, N, Rashid, MH, Hughes, DS (2004) New ocular findings in a case of Kabuki syndrome. Eye (Lond) 18: pp. 322-324 CrossRef
  10. Pagon, RA, Graham, JM, Zonana, J, Yong, SL, Yong, SL (1981) Coloboma, congenitalheart disease, and choanal atresia with multiple anomalies: CHARGEassociation. J Pediatr 99: pp. 223-227 CrossRef
  11. Schulz, Y, Freese, L, M盲nz, J, Zoll, B, V枚lter, C, Brockmann, K, B枚gershausen, N, Becker, J, Wollnik, B, Pauli, S (2014) CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum Mol Genet 23: pp. 4396-4405 CrossRef
  12. Verhagen, JM, Oostdijk, W, Terwisscha Van Scheltinga, CE, Schalij-delfos, NE, van Bever, Y (2014) An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome. Eur J Med Genet 57: pp. 510-512 CrossRef
  13. Genevi猫ve, D, Amiel, J, Viot, G, Le Merrer, M, Sanlaville, D, Urtizberea, A, G茅rard, M, Munnich, A, Cormier-Daire, V, Lyonnet, S (2004) Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A 129: pp. 64-68 CrossRef
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  15. The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-2415/14/143/prepub
  
• 刊物主题：Ophthalmology;
• 出版者：BioMed Central
• ISSN：1471-2415

文摘

Background Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions. Case presentation A 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial features. Ophthalmic findings which have been previously reported in the literature and in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, and microcornea. The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping. The genetic analysis identified an MLL2 gene mutation. Conclusion The presentations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabuki syndrome, but these ophthalmic abnormalities may affect vision. Detailed ophthalmic evaluations in children with Kabuki syndrome are advised.