title: Extended clinical features associated with novel Glis3 mutation: a case report.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: King Abdullah Bin Abdulaziz University Hospital, Riyadh, Kingdom of Saudi Arabia.
authors.forename: K A
authors.initials: KA
authors.lastname: Alghamdi
authors.affiliation: Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia.
authors.forename: A B
authors.initials: AB
authors.lastname: Alsaedi
authors.affiliation: Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.
authors.forename: A
authors.initials: A
authors.lastname: Aljasser
authors.affiliation: Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.
authors.forename: A
authors.initials: A
authors.lastname: Altawil
authors.affiliation: Pediatrics and Pediatric Hepatologist, Faculty of Medicine, Cairo University, Cairo, Egypt. nagla.kamal@kasralainy.edu.eg.|Pediatrics and Pediatric Hepatologist, Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia. nagla.kamal@kasralainy.edu.eg.
authors.forename: Naglaa M
authors.initials: NM
authors.lastname: Kamal
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003409:Congenital Hypothyroidism / Q000150:complications / Q000235:genetics; D003241:Consanguinity; D003920:Diabetes Mellitus / Q000151:congenital* / Q000235:genetics*; D005837:Genitalia, Male / Q000002:abnormalities; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D000071676:Zinc Finger Protein GLI1 / Q000235:genetics*
chemical_list: C400551:GLI1 protein, human; D000071676:Zinc Finger Protein GLI1
keywords: Abnormal genitalia; Clinical features; GLIS3 mutation; Saudi