0000000000164975
AUTHOR
G. Wildhardt
Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system: atypical results, detection of the variant C20209T and possible clinical implications
In the differential diagnosis of thrombophilic disorders genotyping of prothrombin and factor V are nowadays performed as a routine analysis. In the following we describe the unusual results of the mutation screening using melting point analysis for two patients and the consecutive detection of the mutation C20209T by sequencing the corresponding gene fragments. The molecular result is discussed with special respect to the medical history, ethnic background and clinical findings of both patients.
Ten novel mutations found in Aniridia.
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…
Hypochondroplasie, Achondroplasie und thanatophore Dysplasie als Folge von Mutationen des Fibroblastenwachstumsfaktorrezeptor-3-Gens (FGFR3)
Fragestellung: Molekulargenetische Untersuchungen aus dem Jahr 1994 hatten ergeben, das der Achondroplasie, der haufigsten Osteochondrodysplasie, praktisch nur eine spezifische Mutation des Fibroblastenwachstumsfaktorrezeptor-3-Gens (FGFR3) zugrundeliegt. In der Folge wurden bei weiteren Mitgliedern dieser Skelettdysplasiefamilie charakteristische FGFR3-Mutationen gefunden. Dies betraf die letale thanatophore Dysplasie Typ I und II und die Hypochondroplasie, den leichsten Phanotyp dieses klinischen Spektrums. Methode: Wir berichten uber die molekulargenetische Analyse von 169 Patienten (83 Achondroplasie; 77 Hypochondroplasie; 8 thanatophore Dysplasie Typ I; 1 thanatophore Dysplasie Typ II)…