p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two Forms of 21-Hydroxylase Deficiency

Abstract

According to phenotype and functional studies, p.H62L is a mild mutation, responsible for a more severe phenotype when associated with another mild mutation. These data are important for patient management and genetic counseling.

Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients

“…In vitro activity data revealed a synergistic effect of p.H62Lϩp.P453, which may explain the mild SV phenotype of the Scandinavian patients. Similar results on these mutations were published during revision of this paper (20). In summary, we describe five rare, including three novel CYP21A2 mutations causing 21OHD.…”

Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia

“…The majority (93.3%) presented abnormal 17-OHP values in relation to the normal reference values in the literature (40,43,44); moreover, if we plot these results on New's nomogram (45) 13 infants (86.7%) were in the range of heterozygotes, 1 in the range of patients with a non-classic form of CAH, and 1 in the range of unaffected infants. This normal result was found for a girl who was submitted to the Figure 1 Blood spot 17-OHP levels in the screening of three groups of newborns in relation to gestational age.…”

“…The molecular study was performed according to a cascade strategy, permitting the exploration of the entire gene at the Endocrine and Molecular Biochemistry Laboratory of Debrousse Hospital, Lyon, France (40).…”

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

“…CYP21A2 molecular analysis was prescribed by the referring endocrinologist and performed (by YM and VT-G) in the Molecular Laboratory for Rare Endocrine Disorders (Lyon, France), as previously reported (8,25,26).…”