title: Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.
abstract: Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia. Laboratory tests revealed direct hyperbilirubinemia. The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation. He was found to have homozygous nonsense mutation c. 2270 C>T (Arg924X) at exon 14 of the INSR gene. He later developed enterocolitis and died at 3 months old. Prenatal diagnosis was performed for the family via chorionic villous biopsy. We try to explain gastrointestinal dysfunction seen in our patient.
authors.forename: Ons
authors.initials: O
authors.lastname: Azzabi
authors.forename: Houweyda
authors.initials: H
authors.lastname: Jilani
authors.forename: Imen
authors.initials: I
authors.lastname: Rejeb
authors.forename: Nadia
authors.initials: N
authors.lastname: Siala
authors.forename: Yasmina
authors.initials: Y
authors.lastname: Elaribi
authors.forename: Syrine
authors.initials: S
authors.lastname: Hizem
authors.forename: Ines
authors.initials: I
authors.lastname: Selmi
authors.forename: Sonia
authors.initials: S
authors.lastname: Halioui
authors.forename: Olivier
authors.initials: O
authors.lastname: Lascols
authors.forename: Lamia Ben
authors.initials: LB
authors.lastname: Jemaa
authors.forename: Ahmed
authors.initials: A
authors.lastname: Maherzi
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D056731:Donohue Syndrome / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C435941:INSR protein, human; D011972:Receptor, Insulin