title: Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.
abstract: Following the recent identification of specific germline mutations of the RET proto-oncogene in Multiple Endocrine Neoplasia type 2A (MEN2A) patients, we looked for mutations of this gene in a pedigree showing recurrence of MEN2A and localized Cutaneous Lichen Amyloidosis (CLA). Basal calcitonin and/or pentagastrin test performed in all the 10 available members of this pedigree confirmed the clinical diagnosis and allowed the presymptomatic identification of an additional carrier. A cys634-->tyr missense mutation, already reported as causative in MEN2A patients, was identified after SSCP analysis and direct sequencing of exon 11 of the RET protooncogene in one individual affected with both MEN2A and CLA, thus suggesting a common etiology for the two disorders. Taking advantage of the observation of an RsaI restriction site in the sequence surrounding the mutated codon, we could demonstrate that the same mutation is present in three other affected members, in the presymptomatic carrier and in one additional 25 years old healthy member who shows a mildly positive pentagastrin test.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Ceccherini
authors.forename: C
authors.initials: C
authors.lastname: Romei
authors.forename: V
authors.initials: V
authors.lastname: Barone
authors.forename: F
authors.initials: F
authors.lastname: Pacini
authors.forename: E
authors.initials: E
authors.lastname: Martino
authors.forename: A
authors.initials: A
authors.lastname: Loviselli
authors.forename: A
authors.initials: A
authors.lastname: Pinchera
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D000686:Amyloidosis / Q000150:complications / Q000235:genetics*; D001483:Base Sequence; D003545:Cysteine / Q000235:genetics; D005091:Exons; D006580:Genetic Carrier Screening; D006801:Humans; D008010:Lichen Planus / Q000150:complications / Q000235:genetics*; D008969:Molecular Sequence Data; D009377:Multiple Endocrine Neoplasia / Q000150:complications / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D014443:Tyrosine; D003545:Cysteine