First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.

Autor: Concolino P; Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University School of Medicine, Largo F. Vito, 1-00168, Rome, Italy., Corsello S, Carrozza C, Minucci A, Santonocito C, Lovicu RM, Santini SA, Ameglio F, Zuppi C, Capoluongo E
Jazyk: angličtina
Zdroj: Clinical biochemistry [Clin Biochem] 2007 Dec; Vol. 40 (18), pp. 1435-6. Date of Electronic Publication: 2007 Sep 26.
DOI: 10.1016/j.clinbiochem.2007.09.002
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz: