Document Detail


Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes.
MedLine Citation:
PMID:  18059093     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Short stature is a well-recognized feature of Duchenne muscular dystrophy, whilst it has been reported rarely in Becker muscular dystrophy (BMD). Here we report two brothers with BMD, who exhibited a very different growth pattern. Whereas in the short brother (-2.2 SDS) molecular investigation revealed a G367A mutation in the short stature homeobox containing (SHOX) gene located in the Xp22.3 region, no abnormality was found in the brother with normal height (-0.1 SDS). Our data suggest that abnormal growth observed in a boy with BMD may be related to an additional genetic alteration, already known as correlated with short stature.
Authors:
M F Messina; M Aguennouz; T Arrigo; C Rodolico; M Valenzise; O Musumeci; G Vita; N Lanzano; F De Luca
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-12-05
Journal Detail:
Title:  Hormone research     Volume:  69     ISSN:  1423-0046     ISO Abbreviation:  Horm. Res.     Publication Date:  2008  
Date Detail:
Created Date:  2008-01-16     Completed Date:  2008-03-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0366126     Medline TA:  Horm Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  124-8     Citation Subset:  IM    
Copyright Information:
(c) 2007 S. Karger AG, Basel
Affiliation:
Department of Pediatrics, Psychiatry and Anesthesiology, University of Messina, Messina, Italy.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Growth Disorders / genetics*
Homeodomain Proteins / genetics*
Humans
Muscular Dystrophy, Duchenne / genetics*
Mutation
Chemical
Reg. No./Substance:
0/Homeodomain Proteins; 0/SHOX protein, human

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


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