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Extended clinical features associated with novel Glis3 mutation: a case report
K A Alghamdi1, A B Alsaedi2, A Aljasser3
1King Abdullah Bin Abdulaziz University Hospital, Riyadh, Kingdom of Saudi Arabia.
BMC Endocrine Disorders
|March 4, 2017
Summary
Genetic mutations in GLI-similar 3 (GLIS3) can cause neonatal diabetes and hypothyroidism. Screening for GLIS3 gene mutations is recommended for infants with neonatal diabetes and dysmorphism.
Area of Science:
- Genetics
- Endocrinology
- Developmental Biology
Background:
- Mutations in the GLI-similar 3 (GLIS3) gene are a rare cause of neonatal diabetes and congenital hypothyroidism.
- GLIS3 mutations have been associated with a spectrum of congenital anomalies in 12 previously reported patients.
Observation:
- A novel homozygous mutation in the GLIS3 gene was identified in a patient with consanguineous parents.
- The patient presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma, and facial dysmorphism.
Findings:
- This case expands the phenotypic spectrum associated with GLIS3 mutations.
- The identified mutation represents a new cause of this rare genetic disorder.
Implications:
- Early genetic screening for GLIS3 mutations in infants with neonatal diabetes and dysmorphism is crucial for timely diagnosis and management.
- Understanding the role of GLIS3 in development can inform future therapeutic strategies for related disorders.
