Yemenite deaf-blind hypopigmentation syndrome explained

Yemenite deaf-blind hypopigmentation syndrome
Synonyms:	Warburg-Thomsen syndrome

Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10^[1] (not SOX10).^[2]

It was characterized in 1990,^[3] 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."^[4] Some sources affirm SOX10 involvement.^{[5] [6]}

See also

• ABCD syndrome
• List of cutaneous conditions

Notes and References

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