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

Author:

Griffero Mariana1,Benedetti Anna Flavia Figueredo2,Pérez Marcela3,Carvalho Luciani4,Jorge Alexander24,Latronico Ana Claudia4,Mendonca Berenice24,Arnhold Ivo4,Mericq Verónica1

Affiliation:

1. Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile , Santiago , Chile

2. Laboratório de Sequenciamento em Larga Escala (SELA) , Faculdade de Medicina FMUSP, Universidade de São Paulo , São Paulo , SP , Brazil

3. Department of Ophthalmology , Clínica Las Condes and Hospital Salvador , Santiago , Chile

4. Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica , LIM/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo , São Paulo , Brazil

Abstract

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.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

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