McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.
Molecular genetics recently uncovered the mystery of the protean picture of McCune-Albright syndrome by identification of the somatic gain of function mutations in the GNAS1 gene. Here we present an adult patient with fibrous dysplasia and an endocrinopathy resulting in unusual giant height. The clinical diagnosis in the patient could be confirmed by molecular investigations in tissues involved in the process of fibrous dysplasia.
Tinschert
S
S
Institut für Medizinische Genetik, Universitäsklinikum Charité, Humboldt-Universität zu Berlin, Germany.
Gerl
H
H
Gewies
A
A
Jung
H P
HP
Nürnberg
P
P
D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D005145:Face / Q000002:abnormalities; D005359:Fibrous Dysplasia, Polyostotic / Q000000981:diagnostic imaging / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D005877:Gigantism / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D019205:GTP-Binding Protein alpha Subunits, Gs