title: [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
abstract: The Nail-Patella Syndrome (NPS) (OMIM: 161200) is an autosomal dominant disorder characterized by skeletal malformations, such as: patellar aplasia/ hypoplasia, iliac horns on X-ray as well as nail dysplasia, renal and ocular abnormalities. Mutations in the gene encoding transcription factor LMX1B, mapped on the long arm of chromosome 9 (9q34), are responsible for the clinical phenotype of NPS. A familial case (in the mother and her son) of Nail-Patella Syndrome is presented here. DNA analysis has shown a new missense mutation in exon 5 of LMX1B gene (745C-G) leading to a change of glutamine into glutamic acid (Q245E) in the coded protein. Characteristic clinical features, seen in both patients, are discussed within the context of molecular analysis results.
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland. krz19@hotmail.com
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczałuba
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kozłowski
authors.forename: Roberto
authors.initials: R
authors.lastname: Ravazzolo
authors.forename: Bozena
authors.initials: B
authors.lastname: Gołabek
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D060850:LIM-Homeodomain Proteins; D008297:Male; D009261:Nail-Patella Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors