Yemenite deaf-blind hypopigmentation syndrome 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]
^
abLurie, 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.
^Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 717.
ISBN978-1-4160-2999-1.
^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.
PMID2280978.