Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family

Détails

ID Serval
serval:BIB_46FBBDF3D84E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family
Périodique
Hormone Research
Auteur(s)
Ostermann  S., Salvi  R., Lang-Muritano  M., Voirol  M. J., Puttinger  R., Gaillard  R. C., Schoenle  E., Pralong  F. P.
ISSN
0301-0163 (Print)
Statut éditorial
Publié
Date de publication
2006
Volume
65
Numéro
4
Pages
163-8
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Résumé
BACKGROUND: Inactivating mutations of DAX-1 give rise to the X-linked form of adrenal hypoplasia congenita (AHC). Affected fetuses are at risk of early postnatal Addisonian crisis, but the variable phenotypic expression of DAX-1 insufficiency renders this diagnosis challenging. METHODS: We describe the familial transmission of AHC over several generations. The proband was diagnosed with adrenal insufficiency at age 3.5 years: molecular analysis revealed a novel, 373-bp deletion including the second exon of DAX-1. Given the familial history of several unexplained deaths in male infants related to the proband via his maternal great-grandmother, we hypothesized that all these boys had been affected with AHC. Another female member of the family being pregnant with a male fetus at the time, we performed DAX-1 analysis on the mother and the newborn. The mother was heterozygous for the deletion, and the newborn hemizygous: he presented an adrenal crisis at 10 days of life, and is now doing well on hormone replacement therapy. CONCLUSION: The unfortunate deaths of male infants at each generation of this family underlie the importance of early and precise diagnosis of this rare condition, stressing the value of genetic diagnosis in six potential female carriers of this family entering their reproductive years.
Mots-clé
Adrenal Insufficiency/*congenital/*diagnosis/etiology Base Sequence Child DNA/analysis/genetics DNA-Binding Proteins/*deficiency/genetics Deficiency Diseases/complications/*diagnosis/*genetics Exons/genetics Genetic Diseases, X-Linked/diagnosis Hormone Replacement Therapy Humans Male Mutation Pedigree Polymerase Chain Reaction *Prenatal Diagnosis Receptors, Retinoic Acid/*deficiency/genetics Repressor Proteins/genetics Sequence Deletion/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:26
Dernière modification de la notice
08/05/2019 17:58
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