ArticleBMC endocrine disorders2017
Extended clinical features associated with novel Glis3 mutation: a case report.
Article in BMC endocrine disorders, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- A Novel Renal Manifestation inJournal of medical cases · 2026Article
- GLIS3, a novel regulator of eicosanoid gene expression and metabolism in normal kidney and polycystic kidney disease.Biochemical pharmacology · 2026Article
- Alternative Splicing (AS) Provides an Alternative Mechanism for Regulating GLIS3 Expression and Activity.Cells · 2025Article
- GLIS3 expression in the thyroid gland in relation to TSH signaling and regulation of gene expression.Cellular and molecular life sciences : CMLS · 2024Article
- The Effects of Common Genetic Variation in 96 Genes Involved in Thyroid Hormone Regulation on TSH and FT4 Concentrations.The Journal of clinical endocrinology and metabolism · 2022Article
- Review
- Monogenic diabetes: a gateway to precision medicine in diabetes.The Journal of clinical investigation · 2021Review
- Case Report: Neonatal Diabetes Mellitus Caused by a NovelFrontiers in endocrinology · 2021Article
- Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.Frontiers in endocrinology · 2021Article
- Transcription factor GLIS3: Critical roles in thyroid hormone biosynthesis, hypothyroidism, pancreatic beta cells and diabetes.Pharmacology & therapeutics · 2020Review
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.Brain : a journal of neurology · 2020Article
- GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.Cellular and molecular life sciences : CMLS · 2018Review
- Congenital hypothyroidism: insights into pathogenesis and treatment.International journal of pediatric endocrinology · 2017Review
- GLIS1-3: emerging roles in reprogramming, stem and progenitor cell differentiation and maintenance.Stem cell investigation · 2017Review
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency. CASE PRESENTATION: We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism. There were associated abnormalities in the external genitalia in form of bifid scrotum, bilateral undescended testicles, microphallus and scrotal hypospadias which might be a coincidental finding.
conclusionsWe suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.