Yemenite deaf-blind hypopigmentation syndrome

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Yemenite deaf-blind hypopigmentation syndrome
Other namesWarburg-Thomsen syndrome [1]

Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10 [2] (not SOX10). [3]

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It was characterized in 1990, [4] after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation." [1] Some sources affirm SOX10 involvement. [5] [6]

See also

References

  1. 1 2 Lurie, Iosif W. & Victor A. McKusick (17 March 1997). "Yemenite deaf-blind hypopigmentation syndrome". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 25 January 2014.
  2. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 717. ISBN   978-1-4160-2999-1.
  3. ↑ Bondurand N, Kuhlbrodt K, Pingault V, et al. (September 1999). "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies" . Hum. Mol. Genet. 8 (9): 1785–9. doi: 10.1093/hmg/8.9.1785 . PMID   10441344.
  4. ↑ Warburg M, Tommerup N, Vestermark S, et al. (September 1990). "The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome". Ophthalmic Paediatr Genet. 11 (3): 201–7. doi:10.3109/13816819009020980. PMID   2280978.
  5. ↑ Lang D, Epstein JA (April 2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. 12 (8): 937–45. doi: 10.1093/hmg/ddg107 . PMID   12668617.
  6. ↑ Alexander M. Holschneider; Prem Puri (13 December 2007). Hirschsprung's Disease and Allied Disorders. シュプリンガー・ジャパン株式会社. pp. 124–. ISBN   978-3-540-33934-2 . Retrieved 2 January 2011.


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