Original articleDuchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion*
References (14)
- et al.
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus
Am J Hum Genet
(1985) - et al.
Familial hyperglycerolemia
J Clin Invest
(1978) - et al.
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia
Lancet
(1982) Human glycerol kinase deficiency: an inborn error of compartmental metabolism
Biochem Med
(1983)- et al.
A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor
J Pediatr
(1984) - et al.
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities
Ann Neurol
(1980) - et al.
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency in male sibs
Clin Genet
(1983)
Cited by (54)
Hypogonadotropic hypogonadism in subjects with DAX1 mutations
2011, Molecular and Cellular EndocrinologyCitation Excerpt :Prior to the identification of the DAX1 gene, the underlying cause of AHC was unknown. The observation that some patients with X-linked AHC have a contiguous gene syndrome, and present with various combinations of glycerol kinase deficiency, Duchenne muscular dystrophy, ornithine transcarbamoyltransferase deficiency, and mental retardation allowed the locus to be narrowed to Xp21.3-p21.2 (Hammond et al., 1985; Bartley et al., 1986; Francke et al., 1987; Mandel et al., 1989; Goonewardena et al., 1989; Worley et al., 1993). Subsequently, mutations were identified in DAX1, confirming that it is the causative gene for AHC (Muscatelli et al., 1994; Zanaria et al., 1994).
Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency
2010, Annales d'EndocrinologieCitation Excerpt :The protein was shown to repress the function of steroidogenic factor (SF-1), responsible for transactivation of numerous genes involved in biosynthesis of steroid hormones, development of adrenal glands and sexual differentiation [3]. AHC may present isolated or as part of a contiguous gene syndrome, together with glycerol kinase deficiency (GKD) and/or Duchenne muscular dystrophy, which result from deletions in the Xp21.3-p21.1 region [1,4]. Females are asymptomatic mutation carriers, although a case of skewed inactivation of the normal paternal allele in a symptomatic girl with 46,XX karyotype has been described [5].
Molecular analysis of a spontaneous dystrophin 'knockout' dog
1999, Neuromuscular DisordersChapter 14 Mechanisms of congenital malformation
1998, Principles of Medical BiologyDisorders of puberty in boys
1993, Endocrinology and Metabolism Clinics of North America
- *
Supported by a grant from the Muscular Dystrophy Association and by Grants HD-3-2822 and CA28848 from the National Institutes of Health.