Title: X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa
Authors: Lumaka Zola, Aimé
Mubungu Lumbono, Gerrye
Nsibu Ndosimao, Celstin
Tady Muyala, Bruno-Paul
Lukusa-Tshilobo, Prosper
Devriendt, Koenraad # ×
Issue Date: Feb-2012
Publisher: Springer-Verlag
Series Title: European Journal of Pediatrics vol:171 issue:2 pages:267-270
Conference: National congress of Congolese society of Pediatrics edition:3 location:Kinshasa date:July 2009
Abstract: Adrenal hypoplasia congenita (AHC) is a rare disease. The X-linked form of AHC is caused by deletions or mutations in DAX1 gene and has a variable clinical presentation. To date, no data on X-linked AHC in central Africa are available. Here, we report a Congolese pedigree with several cases of unexplained deaths of male infants. A careful analysis of the pedigree of this family lead to the recognition of an X-linked inheritance pattern, with subsequent confirmation in a female heterozygous carrier of a DAX1 missense mutation c.1274G>T, (p.Arg425Ile).The diagnosis of this condition remains challenging in a developing country, since the manifestations of AHC overlap with those of the much more frequently occurring infections; darkening of the skin is difficult to evaluate and there is a lack of access to routine endocrinological testing. The diagnosis was eventually made based on the family pedigree, evoking an X-linked inheritance pattern. This illustrates the necessity for medical and clinical genetics to be part of the curriculum of medical school in developing countries.
ISSN: 0340-6199
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Human Development
× corresponding author
# (joint) last author

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