First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.
OBJECTIVE
To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.


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.
Concolino
Paola
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
Salvatore
S
Carrozza
Cinzia
C
Minucci
Angelo
A
Santonocito
Concetta
C
Lovicu
Rosa Maria
RM
Santini
Stefano Angelo
SA
Ameglio
Franco
F
Zuppi
Cecilia
C
Capoluongo
Ettore
E
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D005260:Female; D005838:Genotype; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D007558:Italy; D008297:Male; D011110:Polymorphism, Genetic; D035781:Siblings; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D014633:Valine / Q000235:genetics
D007532:Isoleucine; D013255:Steroid 21-Hydroxylase; D014633:Valine