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Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

P Dimitri¹, A M Habeb¹, F Gurbuz

¹Department of Paediatric Endocrinology (P.D.), Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom; Paediatric Department (A.M.H.), Prince Mohamed Bin Abdulaziz Hospital, National Guard Health Authority, Al-Madinah, Riyadh 14214, Kingdom of Saudi Arabia; Ankara Pediatric Hematology Oncology Education and Training Hospital (F.G.), Ankara, Turkey; Diabetes Clinical Research Centre (A.M.), Plymouth Hospitals NHS Trust, Derriford PL6 8DH, United Kingdom; Department of Paediatrics (S.W.), Bradford Teaching Hospitals NHS Foundation Trust, Bradford, West Yorkshire BD9 6RJ, United Kingdom; Paediatric Department (K.M.), Maternity and Children Hospital, Jeddah 23342, Kingdom of Saudi Arabia; Kanuni Sultan Süleyman Education and Research Hospital (T.A.), 34303 Küçükçekmece, Istanbul, Turkey; Division of Pediatric Endocrinology (D.T.), Children's Hospital of Michigan, Wayne State University, Detroit, Michigan 48201; Department of Paediatrics (J.J.), Madigan Army Medical Center, Tacoma, Washington 98431; Institute for Human Genetics (A.S.), University of California, San Francisco, California 94143; Department of Paediatric Endocrinology and Diabetes (J.K.H.W.), Lady Cilento Children's Hospital, South Brisbane, Queensland 4101, Australia; Department of Paediatrics (A.S.), Nevill Hall Hospital, Abergavenny NP7 7EG, Wales, United Kingdom; Department of Paediatrics (D.H.), Royal Gwent Hospital, Newport NP20 2UB Wales, United Kingdom; and Institute of Biomedical and Clinical Science (A.T.H., S.E., E.D.F.), University of Exeter Medical School, EX2 5DW, United Kingdom.

The Journal of Clinical Endocrinology and Metabolism

|August 11, 2015

Summary

This summary is machine-generated.

Mutations in the GLIS3 gene cause neonatal diabetes and varied organ issues, but patients can live longer lives. This study details 12 cases, expanding the known GLIS3 mutation phenotype.

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Area of Science:

Genetics
Developmental Biology
Endocrinology

Background:

The GLIS3 (GLI-similar 3) gene encodes a transcription factor crucial for early embryogenesis.
GLIS3 acts as both a transcriptional repressor and activator.
Human GLIS3 mutations are exceptionally rare.

Purpose of the Study:

To characterize the phenotypic spectrum of 12 patients with diverse GLIS3 mutations.
To identify novel clinical features associated with GLIS3 gene alterations.

Main Methods:

Genetic analysis involved PCR amplification and sequencing of GLIS3 exons 1-11.
Clinical data was gathered from referring physicians and detailed questionnaires.

Main Results:

All 12 patients presented with neonatal diabetes, exhibiting variable insulin sensitivities.
Hepatic (hepatitis to cirrhosis) and renal (cystic dysplasia) diseases were prevalent.
New features identified include craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, choanal atresia, sensorineural deafness, and exocrine pancreatic insufficiency.

Conclusions:

GLIS3 mutations present a broader spectrum of abnormalities than previously recognized.
These findings offer new insights into GLIS3's role in human development.
Patients with severe GLIS3 phenotypes may have a longer life expectancy, with the first adult case reported.