Top

Published in:

01-03-2009 | Short Report

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita

Authors: Esra Arun Ozer, Aysun Kaya, Munevver Yildirimer, Ozlem Guler, Sule Can, Halil Aydinlioglu

Published in: European Journal of Pediatrics | Issue 3/2009

Abstract

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. A novel DAX1 (NR0B1) gene mutation was detected in a Turkish newborn boy presenting with primary adrenal insufficiency. He was from a family with a history of unexplained death of three male siblings in the neonatal period. This report highlights the value of mutational analysis of the DAX1 gene for definitive diagnosis of AHC as well as for genetic counselling because this disorder shows an X-linked genetic pattern of transmission, providing the possibility of finding new cases even in presymptomatic individuals.

Achermann JC, Silverman BL, Habiby RL, Jameson JL (2000) Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. J Pediatr 137:878–881. doi:10.1067/mpd.2000.108567 PubMedCrossRef

Calliari LEP, Longui CA, Rocha MN, Faria CDC (2007) A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita. Genet Mol Res 6:177–183PubMed

Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF, Jameson JL (1996) Adrenal hypoplasia congenita with hypogonadotropic hypogonadism. J Clin Invest 98:1055–1062. doi:10.1172/JCI118866 PubMedCrossRef

Lehmann SG, Lalli E, Corsi PS (2002) X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX1 protein. Proc Natl Acad Sci 12:8225–8230. doi:10.1073/pnas.122044099 CrossRef

Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P (2006) DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients. Eur J Endocrinol 154:685–689. doi:10.1530/eje.1.02132 PubMedCrossRef

Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W (1994) Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 15:672–676. doi:10.1038/372672a0 CrossRef

Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL (1999) Clinical and functional effects of mutations in the DAX1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrin Metab 84:504–511. doi:10.1210/jc.84.2.504 CrossRef

Sadeghi-Nejad A, Senior B (1990) Adrenomyeloneuropathy presenting as Addison’s disease in childhood. N Engl J Med 322:13–16PubMed

Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF (1999) X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 84:4501–4509. doi:10.1210/jc.84.12.4501 PubMedCrossRef

10.

Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER (1994) An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 15:635–641. doi:10.1038/372635a0 CrossRef

Title: A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita
Authors: Esra Arun Ozer
Aysun Kaya
Munevver Yildirimer
Ozlem Guler
Sule Can
Halil Aydinlioglu
Publication date: 01-03-2009
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 3/2009
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0778-y

At a glance: The STEP trials

Springer Medicine

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2009

Parental perception of weight and weight-related behaviour in 2- to 4-year-old children in the eastern part of the Netherlands

Tracheobronchial anatomy and the distribution of inhaled foreign bodies in children

Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency

Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene

Saccharomyces boulardii in childhood

Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2—initial and long-term response to sulfonylurea therapy