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Gene. 2014 Jan 25;534(2):282-5. doi: 10.1016/j.gene.2013.10.043. Epub 2013 Nov 6.

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

Author information

  • 1Paediatric Endocrinology Unit, "Cardarelli" Hospital, Campobasso, Italy.
  • 2Ulverscroft Vision Research Group, Developmental Biology Unit, UCL Institute of Child Health, London, UK.
  • 3Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Napoli, Italy.
  • 4NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
  • 5Department of Biomedical Sciences and Human Oncology, Section of Pediatrics, University "Aldo Moro", Bari, Italy.
  • 6Department of Medicine and Health Sciences, Section of Endocrinology, University of Molise, Campobasso, Italy.
  • 7Department of Biomedical Sciences and Human Oncology, Section of Pediatrics, University "Aldo Moro", Bari, Italy. Electronic address: mariafelicia.faienza@uniba.it.


Heterozygous de novo mutations in SOX2 have been reported in approximately 10-20% of patients with unilateral or bilateral anophthalmia or microphthalmia. An additional phenotype of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations. We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. The mutation we describe is a cytosine deletion in position 905 (c905delC) which causes frameshift and an aberrant C-terminal domain. Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations are at high risk for gonadotropin deficiency, which has important implications for their clinical management.

Copyright © 2013 Elsevier B.V. All rights reserved.


ACTH; FSH; GH; GHD; GHRH; GnRH; Growth hormone deficiency; HMG; Hypogonadotropic hypogonadism; Hypopituitarism; LH; MRI; SOX2 mutations; SRY-related high mobility group; TRH; TSH; adrenocorticotropic hormone; follicle-stimulating hormone; gonadotropin releasing hormone; growth hormone; growth hormone deficiency; growth hormone releasing hormone; luteotropin hormone; magnetic resonance imaging; thyroid-stimulating hormone; thyrotropin releasing hormone

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