title: First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.
abstract: 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.
authors.affiliation: Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University School of Medicine, Largo F. Vito, 1-00168, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Salvatore
authors.initials: S
authors.lastname: Corsello
authors.forename: Cinzia
authors.initials: C
authors.lastname: Carrozza
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Concetta
authors.initials: C
authors.lastname: Santonocito
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Lovicu
authors.forename: Stefano Angelo
authors.initials: SA
authors.lastname: Santini
authors.forename: Franco
authors.initials: F
authors.lastname: Ameglio
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: 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
chemical_list: D007532:Isoleucine; D013255:Steroid 21-Hydroxylase; D014633:Valine