Document Detail

CBG Santiago: a Novel CBG Mutation.
MedLine Citation:
PMID:  22013108     Owner:  NLM     Status:  Publisher    
Context:Corticosteroid-binding globulin (CBG; SERPIN A6) gene mutations are rare; only four mutations have been described, often in association with fatigue and chronic pain, albeit with incomplete penetrance.Patient:We report a kindred with a novel SERPINA6 mutation. The proband, a 9-yr-old male, had excessive postexertional fatigue, weakness, and migraine.Main Outcome Measures and Results:Investigations revealed low morning and ACTH-stimulated peak cortisol levels. SERPIN A6 sequencing detected a novel exon 2 single base deletion (c.13delC) leading to a frameshift generating a stop codon within the signal peptide coding region (p.Leu5CysfsX26) and 50% reduced CBG levels in heterozygotes. The patient's father and two sisters share the mutation. Symptom expression within the family may have been modified by a polymorphic CBG allele (c.735G>T). Exogenous hydrocortisone had no effect on the fatigue.Conclusion:This report documents the fifth CBG gene mutation in humans and the second causing major effects on CBG levels. Individuals with low CBG levels may be misdiagnosed as having secondary hypocortisolism. The association with fatigue and idiopathic pain is again noted and may relate to altered stress system function. Variability of the phenotype may relate to other genetic variations of the CBG gene or environmental factors.
D J Torpy; B Ardesjö Lundgren; J T Ho; J G Lewis; H S Scott; V Mericq
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-10-19
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  -     ISSN:  1945-7197     ISO Abbreviation:  -     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-10-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Endocrine and Metabolic Unit (D.J.T., J.T.H.), Royal Adelaide Hospital, Adelaide SA 5000, Australia; Department of Molecular Pathology (B.A.L., H.S.S.), The Centre for Cancer Biology, Institute of Medical and Veterinary Science and The Hanson Institute, South Australia 5000, Australia; School of Molecular and Biomedical Science (H.S.S.), University of Adelaide and the Adelaide Cancer Research Institute, Adelaide SA 5005, South Australia, Australia; The School of Medicine, University of Adelaide (D.J.T.), Adelaide SA 5005, South Australia, Australia; Canterbury Health Laboratories (J.G.L.), Christchurch 8011, New Zealand; and Institute of Maternal and Child Research (V.M.), Faculty of Medicine, University of Chile, Santiago 1025, Chile.
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