Yemenite deaf-blind hypopigmentation syndrome

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Yemenite deaf-blind hypopigmentation syndrome
Classification and external resources
OMIM 601706

The genetic disorder Yemenite deaf-blind hypopigmentation syndrome, also known as Warburg-Thomsen syndrome,[1] is a condition caused by a mutation on the SRY-related HMG-box gene 10[2] (not SOX10).[3]

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[edit]

References[edit]

  1. ^ a b Lurie, Iosif W. and 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 1-4160-2999-0. 
  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.