Role of SOX2 in foregut development in relation to congenital abnormalities

Table 2 The role of SOX genes in diseases

SOX gene	Chromosome location	Disease
SOX2	3q26.3-q27	Microphthalmia, syndromic 3 optic nerve hypoplasia, abnormalities of the central nervous system, CHARGE-syndrome[65], AEG-syndrome[57], EA/TEF[58], CPAM[39,40]
SOX3	Xq27.1	Mental retardation, X-linked with isolated growth hormone deficiency, infundibular hypoplasia, hypopituitarism[117]
SOX9	17q23	Campomelic dysplasia with autonomic XY sex reversal[117], Pierre-Robin syndrome[118]
SOX10	22q13.1	Waardenburg-Shah syndrome, Yemenite deaf-blind hypopigmentation syndrome, peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburgh syndrome, Hirschprung’s disease[117]
SOX11	2p25	Unknown
SOX17	8q11.23	Unknown
SOX18	20q13.33	Hypotrichosis-lymphedema-telangiectasia syndrome[117]

EA/TEF: Esophageal atresia/tracheoesophageal fistula; CPAM: Congenital pulmonary and airway malformations.