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

  • Antonella Lonero , Maurizio Delvecchio EMAIL logo , Paola Primignani , Roberto Caputo , Sara Bargiacchi , Silvana Penco , Lucia Mauri , Elena Andreucci , Maria Felicia Faienza and Luciano Cavallo
Published/Copyright: March 12, 2016
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 29 Issue 5

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
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:

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Received: 2015-10-28
Accepted: 2016-1-22
Published Online: 2016-3-12
Published in Print: 2016-5-1

©2016 by De Gruyter

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  4. Original Articles
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  10. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
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  14. Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
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  16. Case Reports
  17. A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
  18. A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
  19. A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
  20. Familial Turner syndrome: the importance of information
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https://doi.org/10.1515/jpem-2015-0425
Keywords for this article
ectopic neurohypophysis; frameshift mutation; growth hormone deficiency; microphthalmia; OTX2

Articles in the same Issue

  1. Frontmatter
  2. Review
  3. Resistance to thyroid hormone α, revelation of basic study to clinical consequences
  4. Original Articles
  5. Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
  6. Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes
  7. Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents
  8. Classification and clinical characterization of metabolically “healthy” obese children and adolescents
  9. Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios
  10. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
  11. Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency
  12. Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study
  13. A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
  14. Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
  15. Pituitary gigantism: a retrospective case series
  16. Case Reports
  17. A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
  18. A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
  19. A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
  20. Familial Turner syndrome: the importance of information
  21. De novo mutation of PHEX in a type 1 diabetes patient
  22. Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase
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