Obraz kliniczny i podłoze molekularne rodzinnie wystepujacego zespołu paznokciowo-rzepkowego-- identyfikacja nowej mutacji w genie LMX1B.

Translated title of the contribution: Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene

Krzysztof Szczałuba, Ewa Obersztyn, Kazimierz Kozłowski, Roberto Ravazzolo, Bozena Gołabek, Tadeusz Mazurczak

Research output: Contribution to journalArticle

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.

Translated title of the contributionClinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene
Original languagePolish
Pages (from-to)195-203
Number of pages9
JournalMedycyna wieku rozwojowego
Volume9
Issue number2
Publication statusPublished - 2005

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    Szczałuba, K., Obersztyn, E., Kozłowski, K., Ravazzolo, R., Gołabek, B., & Mazurczak, T. (2005). Obraz kliniczny i podłoze molekularne rodzinnie wystepujacego zespołu paznokciowo-rzepkowego-- identyfikacja nowej mutacji w genie LMX1B. Medycyna wieku rozwojowego, 9(2), 195-203.