title: A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
abstract: Leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome are caused by mutations in the insulin receptor gene and are associated with extreme insulin resistance. Clinically these syndromes appear to represent points on a continuum of severity of receptor dysfunction, rather than completely distinct syndromes. We investigated a Libyan infant with growth retardation, facial dysmorphism (elfin-like features), acanthosis nigricans and hirsutism. Fasting hypoglycaemia and postprandial hyperglycaemia with persistent hyperinsulinemia were found. A novel homozygous missense mutation was found in exon 2, resulting in a substitution of a glycine-132 for a serine in the INSR α-subunit (c.394G > A; p.Gly132Ser). At age ten, he developed diabetes mellitus. At age eleven, patient is still alive with mental retardation and severe growth retardation.
authors.affiliation: Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia. Electronic address: rimbenabdelaziz@yahoo.fr.
authors.forename: Rim
authors.initials: R
authors.lastname: Ben Abdelaziz
authors.affiliation: Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia.
authors.forename: Amel
authors.initials: A
authors.lastname: Ben Chehida
authors.affiliation: Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia.
authors.forename: Hatem
authors.initials: H
authors.lastname: Azzouz
authors.affiliation: Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia.
authors.forename: Hela
authors.initials: H
authors.lastname: Boudabbous
authors.affiliation: Department of Biology and Molecular Genetics, Saint-Antoine Hospital, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Lascols
authors.affiliation: Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia.
authors.forename: Hadhami
authors.initials: H
authors.lastname: Ben Turkia
authors.affiliation: Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia.
authors.forename: Néji
authors.initials: N
authors.lastname: Tebib
mesh_terms: D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D056731:Donohue Syndrome / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011972:Receptor, Insulin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D016415:Sequence Alignment
chemical_list: D011972:Receptor, Insulin
keywords: Insulin receptor; Insulin receptor gene; Insulin-resistance; Leprechaunism