SOX2 gene

Overview

Gene (OMIM No.)	SOX2 (#184429)
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)
Inheritance	de novo sporadic (majority) Autosomal dominant
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum (usually bilateral) Anterior segment dysgenesis Optic nerve hypoplasia
Systemic features	Main 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 diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Management of anterior segment dysgenesis Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	Medline Plus

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References

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
Bylund M, Andersson E, Novitch BG, Muhr J. Vertebrate neurogenesis is counteracted by Sox1-3 activity. Nat Neurosci. 2003;6(11):1162‐1168
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
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
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
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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