Document Detail


Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
MedLine Citation:
PMID:  7955386     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe an infant with adrenal insufficiency who was subsequently diagnosed with Duchenne muscular dystrophy (DMD) and hyperglycerolemia due to glycerol kinase deficiency. Karyotyping showed a deletion on the short arm of the X chromosome (p21.1 to p22.1). Molecular mapping revealed that the deletion extended from the 3' end of the DMD gene to a site telomeric to the loci for X-linked congenital adrenal hypoplasia and glycerol kinase deficiency. These results are diagnostic for an Xp21 contiguous gene deletion syndrome--so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same individual. The Xp21 syndrome should be considered in any infant with adrenal insufficiency. Measurement of serum triglycerides (without glycerol blanking) and creatine kinase activity are simple screening tests that may facilitate early diagnosis and appropriate genetic counseling about risks of recurrence in subsequent offspring.
Authors:
D E Cole; L A Clarke; D C Riddell; K A Samson; W K Seltzer; S Salisbury
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical chemistry     Volume:  40     ISSN:  0009-9147     ISO Abbreviation:  Clin. Chem.     Publication Date:  1994 Nov 
Date Detail:
Created Date:  1994-12-08     Completed Date:  1994-12-08     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9421549     Medline TA:  Clin Chem     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2099-103     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
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MeSH Terms
Descriptor/Qualifier:
Adrenal Insufficiency / genetics*
Blotting, Southern
Chromosome Mapping
Gene Deletion*
Glycerol / blood
Glycerol Kinase / deficiency*
Humans
Infant, Newborn
Karyotyping
Male
Muscular Dystrophies / genetics*
Polymerase Chain Reaction
X Chromosome*
Chemical
Reg. No./Substance:
56-81-5/Glycerol; EC 2.7.1.30/Glycerol Kinase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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