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

Autor:	Griffero M; Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santiago, Chile., Benedetti AFF; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil., Pérez M; Department of Ophthalmology, Clínica Las Condes and Hospital Salvador, Santiago, Chile., Carvalho L; 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., Jorge A; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.; 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., Latronico AC; 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., Mendonca B; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.; 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., Arnhold I; 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., Mericq V; Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santiago, Chile.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Mar 24; Vol. 35 (6), pp. 831-835. Date of Electronic Publication: 2022 Mar 24 (Print Publication: 2022).
DOI:	10.1515/jpem-2021-0719
Abstrakt:	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. (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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