Document Detail


Sibling phenotype concordance in classical infantile Pompe disease.
MedLine Citation:
PMID:  17853454     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pompe disease (acid-alpha-glucosidase deficiency) encompasses a clinical spectrum, ranging from severe infantile-onset disease with clinical symptoms appearing before 1 year of age with rapid progression to an early death, to late-onset disease with a much more variable age at onset and disease course. Sibling phenotype discordance has been reported for late-onset Pompe disease, but has not been studied in classical infantile disease. We reviewed the medical literature for affected sibships in which at least one sibling had clinical and pathology or biochemical findings consistent with infantile Pompe disease including symptoms beginning in infancy, early hypotonia, cardiomegaly documented by 6 months of age, and early death. The age at symptom onset, age at death, and clinical course were compared between probands and affected siblings. Our results showed that since 1931, publications document 13 families with 31 affected infants (11 probands; 20 affected siblings). The median age at symptom onset for all affected infants was 3 months (range 0-6 months) with significant correlation (R = 0.60, P = 0.04) between probands and affected siblings. The median age at death for all affected infants was 6 months (range 1.5-13 months); probands were slightly older at death than their siblings. The median length of disease course for all affected infants was 3 months (0-10 months) and was slightly longer for probands. Unlike late-onset Pompe disease, there appears to be minimal phenotypic and lifespan variation among siblings with infantile Pompe disease. This prognostic information is vital for families with affected infants and allows for appropriate genetic counseling.
Authors:
Wendy E Smith; Jennifer A Sullivan-Saarela; Jennifer S Li; Gerald F Cox; Deyanira Corzo; Yuan-Tsong Chen; Priya S Kishnani
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-10-30     Completed Date:  2008-01-08     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2493-501     Citation Subset:  IM    
Copyright Information:
Copyright 2007 Wiley-Liss, Inc.
Affiliation:
Division of Genetics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine, USA. smithw@mmc.org
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MeSH Terms
Descriptor/Qualifier:
Glycogen Storage Disease Type II / genetics*,  therapy
Humans
Infant
Phenotype
Siblings*

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


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