• PMID: 24211324
• Gene Name: SOX2
• Condition: Hypopituitarism, with anterior pituitary hypoplasia, hypogonadotropic hypogonadism
• Association: 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 fo
• Mutation: c905delC
• Population size: 1
• Population details: 1 patient with hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism
• Sex: Male
• Infertility type: Male infertiltiy
• Other associated phenotypes: Hypopituitarism, with anterior pituitary hypoplasia, hypogonadotropic hypogonadism

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

Macchiaroli A, Kelberman D, Auriemma RS, Drury S, Islam L, Giangiobbe S, Ironi G, Lench N, Sowden JC, Colao A, Pivonello R, Cavallo L, Gasperi M, Faienza MF.

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. CI - Copyright © 2013 Elsevier B.V. All rights reserved. FAU - Macchiaroli, Annamaria AU - Macchiaroli A AD - Paediatric Endocrinology Unit, "Cardarelli" Hospital, Campobasso, Italy. FAU - Kelberman, Daniel AU - Kelberman D AD - Ulverscroft Vision Research Group, Developmental Biology Unit, UCL Institute of Child Health, London, UK. FAU - Auriemma, Renata Simona AU - Auriemma RS AD - Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Napoli, Italy. FAU - Drury, Suzanne AU - Drury S AD - NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK. FAU - Islam, Lily AU - Islam L AD - Ulverscroft Vision Research Group, Developmental Biology Unit, UCL Institute of Child Health, London, UK. FAU - Giangiobbe, Sara AU - Giangiobbe S AD - Paediatric Endocrinology Unit, "Cardarelli" Hospital, Campobasso, Italy. FAU - Ironi, Gabriele AU - Ironi G AD - Paediatric Endocrinology Unit, "Cardarelli" Hospital, Campobasso, Italy. FAU - Lench, Nicholas AU - Lench N AD - NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK. FAU - Sowden, Jane C AU - Sowden JC AD - Ulverscroft Vision Research Group, Developmental Biology Unit, UCL Institute of Child Health, London, UK. FAU - Colao, Annamaria AU - Colao A AD - Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Napoli, Italy. FAU - Pivonello, Rosario AU - Pivonello R AD - Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Napoli, Italy. FAU - Cavallo, Luciano AU - Cavallo L AD - Department of Biomedical Sciences and Human Oncology, Section of Pediatrics, University "Aldo Moro", Bari, Italy. FAU - Gasperi, Maurizio AU - Gasperi M AD - Department of Medicine and Health Sciences, Section of Endocrinology, University of Molise, Campobasso, Italy.