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.

Autore Pugliese

• Faienza Maria Felicia

Tutti gli autori

• CAVALLO L.;FAIENZA M.F.

Titolo volume/Rivista

Non Disponibile

Anno di pubblicazione

2014

ISSN

0378-1119

ISBN

Non Disponibile

Numero di citazioni Wos

10

Ultimo Aggiornamento Citazioni

Non Disponibile

Numero di citazioni Scopus

12

Ultimo Aggiornamento Citazioni

Non Disponibile

Settori ERC

Non Disponibile

Codici ASJC

Non Disponibile