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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

Online
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2191-0251
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Volume 29, Issue 5

Issues

A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency

Antonella Lonero
  • Department of Biomedical Sciences and Human Oncology, AOU Policlinico Giovanni XXIII Bari, Bari, Italy
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/ Maurizio Delvecchio
  • Corresponding author
  • Department of Biomedical Sciences and Human Oncology, AOU Policlinico Giovanni XXIII Bari, Bari, Italy
  • Email
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/ Paola Primignani
  • Medical Genetics Unit, Department of Laboratory Medicine, ASST Metropolitan Great Hospital Niguarda, Milan, Italy
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/ Roberto Caputo / Sara Bargiacchi
  • Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences ‘Mario Serio’, University of Florence, Florence, Italy
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/ Silvana Penco
  • Medical Genetics Unit, Department of Laboratory Medicine, ASST Metropolitan Great Hospital Niguarda, Milan, Italy
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/ Lucia Mauri
  • Medical Genetics Unit, Department of Laboratory Medicine, ASST Metropolitan Great Hospital Niguarda, Milan, Italy
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/ Elena Andreucci
  • Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences ‘Mario Serio’, University of Florence, Florence, Italy
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/ Maria Felicia Faienza
  • Department of Biomedical Sciences and Human Oncology, AOU Policlinico Giovanni XXIII Bari, Bari, Italy
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/ Luciano Cavallo
  • Department of Biomedical Sciences and Human Oncology, AOU Policlinico Giovanni XXIII Bari, Bari, Italy
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Published Online: 2016-03-12 | DOI: https://doi.org/10.1515/jpem-2015-0425

Abstract

OTX2 mutations are reported in patients with eye maldevelopment and in some cases with brain or pituitary abnormalities. We describe a child carrying a novel OTX2 heterozygous mutation. She presented microphthalmia, absence of retinal vascularization, vitreal spots and optic nerve hypoplasia in the right eye and mild macular dystrophy in the left eye. Midline brain structures and cerebral parenchyma were normal, except for the ectopic posterior pituitary gland. OTX2 sequencing showed a heterozygous c.402del mutation. Most of OTX2 mutations are nonsense or frameshift introducing a premature termination codon and resulting in a truncated protein. More rarely missense mutations occur. Our novel OTX2 mutation (c.402del) is a frameshift mutation (p.S135Lfs*43), never reported before, causing a premature codon stop 43 amino-acids downstream, which is predicted to generate a premature truncation. The mutation was associated with microphthalmia and ectopic posterior pituitary.

Keywords: ectopic neurohypophysis; frameshift mutation; growth hormone deficiency; microphthalmia; OTX2

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About the article

Corresponding author: Maurizio Delvecchio, MD, PhD, Department of Biomedical Sciences and Human Oncology, AOU Policlinico Giovanni XXIII Bari – 70126 Bari, Italy, Phone: +39 080 5593580, Fax: +39 080 5592287, E-mail:


Received: 2015-10-28

Accepted: 2016-01-22

Published Online: 2016-03-12

Published in Print: 2016-05-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 29, Issue 5, Pages 603–605, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0425.

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