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Novel GLIS3 mutations demonstrate an extended multisystem phenotype.

P Dimitri1, J T Warner, J A L Minton

  • 1Department of Paediatric Endocrinology, The Institute of Child Health, The Academic Unit of Child Health, Sheffield Children's Hospital, Sheffield University, Western Bank, Sheffield S10 2TH, UK. pauldimitri@hotmail.com

European Journal of Endocrinology
|December 9, 2010
PubMed
Summary
This summary is machine-generated.

Mutations in the GLI-similar 3 (GLIS3) gene cause neonatal diabetes and hypothyroidism. This study identifies new GLIS3 deletions, expanding the known clinical features of this rare genetic disorder.

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Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Mutations in the GLI-similar 3 (GLIS3) gene are a rare cause of neonatal diabetes and congenital hypothyroidism.
  • Six cases from three families have been reported, with features including glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, and facial dysmorphism.

Observation:

  • Two new cases with novel homozygous partial GLIS3 deletions from unrelated families are presented.
  • Patients exhibited neonatal diabetes mellitus, resistant hypothyroidism, degenerative liver disease, cystic renal dysplasia, recurrent infections, and facial dysmorphism.
  • New associated features include osteopenia, sensorineural deafness, and pancreatic exocrine insufficiency.

Findings:

  • Partial gene deletions are the most common type of GLIS3 mutations, identified in four of five families.
  • The clinical phenotype associated with GLIS3 mutations is broader than previously recognized.
  • The first case of a recessive GLIS3 mutation causing neonatal diabetes and congenital hypothyroidism in a non-consanguineous pedigree is reported.

Implications:

  • These findings underscore the importance of molecular genetic testing for GLIS3 mutations in patients presenting with neonatal diabetes and congenital hypothyroidism.
  • Expanded understanding of the GLIS3 mutation phenotype aids in diagnosis and management.
  • Identification of novel mutations contributes to the genetic landscape of endocrine and developmental disorders.