title: A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.
abstract: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) -OMIM 312870- is a rare X-linked inherited overgrowth syndrome caused by a loss of function mutation in the GPC3 gene. Affected patients present a variable phenotype with pre- and post-natal macrosomia, distinctive facial dysmorphism, organomegaly, and multiple congenital anomalies. Intellectual disability is not constant. About 10% of patients have an increased risk of developing embryonic tumors in early childhood. Only one case of biliary disease has been described so far. GPC3 is localized on Xq26. It encodes for glypican 3, a heparan sulfate proteoglycan, which among its different known roles, negatively regulates liver regeneration and hepatocyte proliferation. This report concerns a male with a SGBS1, carrier of a GPC3 pathogenic mutation, and neonatal liver disease, who developed an early biliary cirrhosis. Together with the associated risk of cancer and developmental delay, liver transplantation was discussed and then successfully performed at the age of 19 months. A hypothesis on the role of GPC3 in the patient's liver disease is also proposed.
authors.affiliation: Medical Genetics Unit, Centre Hospitalier Universitaire d'Amiens, Amiens, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Jedraszak
authors.forename: Muriel
authors.initials: M
authors.lastname: Girard
authors.forename: Antonio
authors.initials: A
authors.lastname: Mellos
authors.forename: Djamal-Dine
authors.initials: DD
authors.lastname: Djeddi
authors.forename: Christophe
authors.initials: C
authors.lastname: Chardot
authors.forename: Audrey
authors.initials: A
authors.lastname: Vanrenterghem
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Moizard
authors.forename: Jean
authors.initials: J
authors.lastname: Gondry
authors.forename: Henri
authors.initials: H
authors.lastname: Sevestre
authors.forename: Michele
authors.initials: M
authors.lastname: Mathieu-Dramard
authors.forename: Florence
authors.initials: F
authors.lastname: Lacaille
authors.forename: Benedicte
authors.initials: B
authors.lastname: Demeer
mesh_terms: D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D001706:Biopsy; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D005877:Gigantism / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D053673:Glypicans / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D008099:Liver / Q000473:pathology; D008105:Liver Cirrhosis, Biliary / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D016031:Liver Transplantation; D008297:Male; D009154:Mutation; D010641:Phenotype; D016896:Treatment Outcome
chemical_list: C105937:GPC3 protein, human; D053673:Glypicans
keywords: GPC3; Simpson-Golabi-Behmel syndrome; biliary cirrhosis; liver transplantation