Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient wih Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

D. A.M. Pillers, R. G. Weleber, B. R. Powell, C. E. Hanna, R. E. Magenis, N. R.M. Buist

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

Glycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal hypoplasia, Duchenne muscular dystrophy, or both. Cytogenetic and molecular studies have localized these defects to a deletion involving the X chromosome at band Xp21, consistent with its X-linked recessive pattern of inheritance. Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, short stature, and hypogonadotrophic hypogonadism. We report on a 6-year old boy who, in addition to the CGKD phenotype described above, had ocular hypopigmentation consistent with Forsius-Eriksson ocular albinism, also known as type 2 ocular albinism or Aland Island eye disease. Cytogenetic analysis shows an interstitial deletion in the short arm of the X-chromosome at Xp21.

Original languageEnglish (US)
Pages (from-to)23-28
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume36
Issue number1
DOIs
StatePublished - Jan 1 1990

Keywords

  • Aland Island disease
  • Xp21
  • chromosome X
  • contiguous gene syndrome
  • ocular albinism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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