Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities

Author(s)

Griffero, Mariana ; Figueredo Benedetti, Anna Flavia ; Perez, Marcela ; Carvalho, Luciani ; Jorge, Alexander ; Latronico, Ana Claudia ; Mendonca, Berenice ; Arnhold, Ivo ; Mericq, Veronica

• Document type: Journal article
• Source: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM; v. 35, n. 6, p. 5-pg., 2022-03-24.

Abstract

Objectives The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including OTX2. OTX2 mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations. Case presentation We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in OTX2 c.426dupC:p.(Ser143Leufs*2). Conclusions Mutations in the transcription factor OTX2 have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in OTX2 associated with hypopituitarism without an ocular phenotype. (AU)

• FAPESP's process: 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders
• Grantee: Alexander Augusto de Lima Jorge
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 15/26563-7 - Molecular genetic diagnosis in patients with pituitary and gonadal developmental disorders and the use of models in vitro and in vivo to evaluate the functional effect of allelic variants identified by sequencing large scale
• Grantee: Luciani Renata Silveira de Carvalho
• Support Opportunities: Regular Research Grants
• FAPESP's process: 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine
• Grantee: Berenice Bilharinho de Mendonça
• Support Opportunities: Research Projects - Thematic Grants