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, Richard Weleber, B. R. Powell, Cheryl Hanna, R. E. Magenis, N. R M Buist

Research output: Contribution to journalArticle

15 Citations (Scopus)

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
StatePublished - 1990

Fingerprint

Ocular Albinism
Duchenne Muscular Dystrophy
X Chromosome
Hypopigmentation
Phenotype
Inheritance Patterns
Hypogonadism
Cytogenetic Analysis
Cytogenetics
Intellectual Disability
Aland Island Eye Disease
X-linked adrenal hypoplasia congenita
Hyperglycerolemia

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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. / Pillers, D. A M; Weleber, Richard; Powell, B. R.; Hanna, Cheryl; Magenis, R. E.; Buist, N. R M.

In: American Journal of Medical Genetics, Vol. 36, No. 1, 1990, p. 23-28.

Research output: Contribution to journalArticle

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AU - Pillers, D. A M

AU - Weleber, Richard

AU - Powell, B. R.

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AU - Magenis, R. E.

AU - Buist, N. R M

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AB - 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.

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