Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10
(not
SOX10
Transcription factor SOX-10 is a protein that in humans is encoded by the ''SOX10'' gene.
Function
This gene encodes a member of the SOX gene family, SOX (Testis-determining factor, SRY-related HMG-box) family of transcription factors involved ...
).
It was characterized in 1990,
after being seen in two siblings from
Yemen
Yemen (; ar, ٱلْيَمَن, al-Yaman), officially the Republic of Yemen,, ) is a country in Western Asia. It is situated on the southern end of the Arabian Peninsula, and borders Saudi Arabia to the Saudi Arabia–Yemen border, north and ...
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."
Some sources affirm ''SOX10'' involvement.
See also
*
ABCD syndrome
*
List of cutaneous conditions
References
External links
Disturbances of human pigmentation
Syndromes
{{Cutaneous-condition-stub