Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Abstract

Xp21 continuous gene deletion syndrome is characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability and/or Duchenne muscular dystrophy (DMD). The clinical features depend on the size of the deletion, as well as on the number and the nature of the encompassed genes. More than 100 male patients have been reported so far, while only a few cases of symptomatic female carriers have been described. We report here detailed clinical features and X chromosome inactivation analysis in two unrelated female patients with overlapping Xp21 deletions presenting with intellectual disability and inconstant muscular symptoms.

• Authors: Solveig Heide, Alexandra Afenjar, Patrick Edery, Damien Sanlaville, Boris Keren, Alexandre Rouen, Alinoë Lavillaureix, Capucine Hyon, Diane Doummar, Jean-Pierre Siffroi, Sandra Chantot-Bastaraud
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 58 Issue 6-7 Pg. 341-5 ( 2015) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 25917374 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Chemical References

• Glycerol Kinase

Topics

• Adrenal Insufficiency (diagnosis, genetics)
• Carbohydrate Metabolism, Inborn Errors (diagnosis, genetics)
• Child
• Chromosomes, Human, X (genetics)
• Female
• Gene Deletion
• Genetic Diseases, X-Linked (diagnosis, genetics)
• Glycerol Kinase (deficiency, genetics)
• Humans
• Hypoadrenocorticism, Familial
• Intellectual Disability (diagnosis, genetics)
• Muscular Dystrophy, Duchenne (diagnosis, genetics)
• Syndrome
• Young Adult