Related Experiment Video
Updated: Sep 29, 2025
Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities
Mariana Griffero1, Anna Flavia Figueredo Benedetti2, Marcela Pérez3
1Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santiago, Chile.
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.
Insights
A novel mutation in the OTX2 gene caused hypopituitarism without eye abnormalities in a young girl. This finding expands the known spectrum of OTX2-related developmental disorders.
Area of Science:
- Genetics
- Developmental Biology
- Endocrinology
Background:
- Pituitary gland development is complex, involving over 30 genes, including the transcription factor OTX2.
- OTX2 mutations are typically linked to ocular abnormalities and congenital hypopituitarism, though presentations vary.
Observation:
- A case study of a girl with hypopituitarism, pituitary hypoplasia, and pituitary stalk atrophy, notably without ocular manifestations.
- Next-generation sequencing identified a new heterozygous mutation in OTX2 (c.426dupC:p.(Ser143Leufs*2)) in the patient.
Findings:
- This report details a novel mutation in the OTX2 gene.
- The identified OTX2 mutation is associated with hypopituitarism but lacks ocular phenotype.
Implications:
- This case broadens the understanding of OTX2's role in pituitary development.
- It highlights the importance of considering OTX2 mutations in cases of isolated hypopituitarism.
- Further research may elucidate the genotype-phenotype correlations for OTX2 mutations.
Related Concept Videos
01:33Pleiotropy
01:11Genetic Lingo
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:25Glaucoma: Overview
01:27Open Angle Glaucoma: Treatment
Drugs such as carbonic anhydrase inhibitors, α2- and...