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Abstract #71620 Published in IGR 18-3
Extended clinical features associated with novel Glis3 mutation: a case report
Alghamdi KA; Alsaedi AB; Aljasser A; Altawil A; Kamal NMBMC endocrine disorders 2017; 17: 14
BACKGROUND: Mutations 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. CONCLUSIONS: We suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations.
King Abdullah Bin Abdulaziz University Hospital, Riyadh, Kingdom of Saudi Arabia.
Full articleClassification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
