SOX2 gene


Gene (OMIM No.)
Function of gene/protein
  • Maintaining pluripotency of embryonic stem cells
  • Plays a critical role in early embryonic development, including the eye
  • Regulates other genes by binding to specific DNA regions (transcription factor)
Clinical phenotype
(OMIM phenotype no.)
  • Microphthalmia, syndromic 3 (#206900)
  • Also known as anophthalmia-oesophageal-genital syndrome
  • Optic nerve hypoplasia and abnormalities of the central nervous system (#206900)
Ocular features
Systemic featuresMain features:
  • Structural brain defects (generalised reduction of white matter, hypothalamic hamartoma)
  • Anterior pituitary hypoplasia resulting in hypogonadotropic hypogonadism
  • Neurological (spastic quadriplegia, sensorineural hearing loss, seizures)
  • Oesophageal atresia and trachea-oesophageal fistula
  • Genital (cryptorchidism, hypospadias, micropenis)
  • Global developmental delay
Additional features:
  • Craniofacial (microcephaly, frontal bossing)
  • Cardiovascular (ventricular septal defects and patent ductus arteriosus)
  • Skeletal anomalies (hemi-/fused/underdeveloped/butterfly vertebrae, absent/extra/fused ribs)
  • Multiple supernumerary teeth (rare)
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Electrophysiology
  • MRI brain and orbit
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  Bardakjian TM, Schneider A. Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. Am J Med Genet A. 2005;132A(1):54‐56
  2.  Bylund M, Andersson E, Novitch BG, Muhr J. Vertebrate neurogenesis is counteracted by Sox1-3 activity. Nat Neurosci. 2003;6(11):1162‐1168
  3.  Masui S, Nakatake Y, Toyooka Y, et al. Pluripotency governed by Sox2 via regulation of Oct3/4 expression in mouse embryonic stem cells. Nat Cell Biol. 2007;9(6):625‐635
  4.  Morini F, Pacilli M, Spitz L. Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. Am J Med Genet A. 2005;132A(1):60‐62
  5.  Numakura C, Kitanaka S, Kato M, et al. Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. Am J Med Genet A. 2010;152A(9):2355‐2359
  6.  Pedace L, Castori M, Binni F, et al. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. Eur J Med Genet. 2009;52(4):273‐276

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Updated on November 30, 2020
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