Elsevier

The Journal of Pediatrics

Volume 108, Issue 2, February 1986, Pages 189-192
The Journal of Pediatrics

Original article
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion*

https://doi.org/10.1016/S0022-3476(86)80980-5Get rights and content

We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. From our findings, we propose that the human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band.

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There are more references available in the full text version of this article.

Cited by (54)

  • Hypogonadotropic hypogonadism in subjects with DAX1 mutations

    2011, Molecular and Cellular Endocrinology
    Citation 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'Endocrinologie
    Citation 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].

  • Chapter 14 Mechanisms of congenital malformation

    1998, Principles of Medical Biology
  • Disorders of puberty in boys

    1993, Endocrinology and Metabolism Clinics of North America
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Supported by a grant from the Muscular Dystrophy Association and by Grants HD-3-2822 and CA28848 from the National Institutes of Health.

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