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

Abstract

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.

• Authors: Annamaria Macchiaroli, Daniel Kelberman, Renata Simona Auriemma, Suzanne Drury, Lily Islam, Sara Giangiobbe, Gabriele Ironi, Nicholas Lench, Jane C Sowden, Annamaria Colao, Rosario Pivonello, Luciano Cavallo, Maurizio Gasperi, Maria Felicia Faienza
• Journal: Gene (Gene) Vol. 534 Issue 2 Pg. 282-5 (Jan 25 2014) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 24211324 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• SOX2 protein, human
• SOXB1 Transcription Factors
• Human Growth Hormone

Topics

• Adolescent
• Anophthalmos (genetics)
• Congenital Abnormalities (genetics)
• Heterozygote
• Human Growth Hormone (deficiency, genetics)
• Humans
• Hypogonadism (etiology, genetics)
• Male
• SOXB1 Transcription Factors (genetics)
• Sequence Deletion