Review
Copyright ©2014 Baishideng Publishing Group Inc.
World J Med Genet. Nov 27, 2014; 4(4): 94-104
Published online Nov 27, 2014. doi: 10.5496/wjmg.v4.i4.94
Table 2 The role of SOX genes in diseases
SOX geneChromosome locationDisease
SOX23q26.3-q27Microphthalmia, syndromic 3 optic nerve hypoplasia, abnormalities of the central nervous system, CHARGE-syndrome[65], AEG-syndrome[57], EA/TEF[58], CPAM[39,40]
SOX3Xq27.1Mental retardation, X-linked with isolated growth hormone deficiency, infundibular hypoplasia, hypopituitarism[117]
SOX917q23Campomelic dysplasia with autonomic XY sex reversal[117], Pierre-Robin syndrome[118]
SOX1022q13.1Waardenburg-Shah syndrome, Yemenite deaf-blind hypopigmentation syndrome, peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburgh syndrome, Hirschprung’s disease[117]
SOX112p25Unknown
SOX178q11.23Unknown
SOX1820q13.33Hypotrichosis-lymphedema-telangiectasia syndrome[117]