Author/Authors :
Paola Concolino، نويسنده , , Salvatore Corsello، نويسنده , , Cinzia Carrozza، نويسنده , , Angelo Minucci، نويسنده , , Concetta Santonocito، نويسنده , , Rosa Maria Lovicu، نويسنده , , Stefano Angelo Santini، نويسنده , , Franco Ameglio، نويسنده , , Cecilia Zuppi، نويسنده , , Ettore Capoluongo، نويسنده ,
Abstract :
Objectives:
To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.
Design and methods:
Direct genetic sequencing of CYP21A2 gene was performed.
Results:
Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.
Conclusions:
V281+I172N/V281L genotype should be included in the panel of mutations associated with the non-classical forms of 21-hydroxylase deficiency.
