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

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 hypogonadotropic 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.

• Authors: D A Pillers, R G Weleber, B R Powell, C E Hanna, R E Magenis, N R Buist
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 36 Issue 1 Pg. 23-8 (May 1990) ISSN: 0148-7299 [Print] United States
• PMID: 2159212 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Phosphotransferases
• Glycerol Kinase

Topics

• Adrenal Insufficiency (congenital, genetics)
• Albinism (genetics)
• Child
• Chromosome Banding
• Chromosome Deletion
• Glycerol Kinase (deficiency)
• Humans
• Intellectual Disability (genetics)
• Male
• Muscular Dystrophies (genetics)
• Phosphotransferases (deficiency)
• Syndrome
• X Chromosome