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    Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes

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    Authors
    Newburger, Peter E.
    Pindyck, Talia N.
    Zhu, Zhiqing
    Bolyard, Audrey Anna
    Aprikyan, Andrew A.G.
    Dale, David C.
    Smith, Gary D.
    Boxer, Laurence A.
    UMass Chan Affiliations
    Senior Scholars Program
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    2010-08-01
    Keywords
    Base Sequence
    Child
    Child, Preschool
    Fathers
    Genetic Predisposition to Disease
    *Haplotypes
    Humans
    Infant
    Inheritance Patterns
    Leukocyte Elastase
    Male
    *Mutation
    Neutropenia
    Pedigree
    Phenotype
    Spermatozoa
    Hematology
    Oncology
    Pediatrics
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    Link to Full Text
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913300/
    Abstract
    BACKGROUND: Cyclic neutropenia (CN) and severe congenital neutropenia (SCN) are disorders of neutrophil production that differ markedly in disease severity. Mutations of the ELANE gene (the symbol recently replacing ELA2) are considered largely responsible for most cases of CN and SCN, but specific mutations are typically associated with one or the other. PROCEDURE: We performed ELANE genotyping on all individuals and paternal sperm in an SCN kindred with eight SCN progeny of a sperm donor and six different mothers. RESULTS: One patient with CN had the same S97L ELANE mutation as seven patients with the SCN phenotype. The mutant allele was detected in the donor's spermatozoa, representing 18% of the ELANE gene pool, but not in DNA from his lymphocytes, neutrophils, or buccal mucosa, indicating gonadal mosaicism. CONCLUSIONS: The coexistence of CN and SCN phenotypes in this kindred with a shared paternal haplotype strongly suggests both a role for modifying genes in determination of congenital neutropenia disease phenotypes, and the classification of CN and SCN within a spectrum of phenotypes expressing varying degrees of the same disease process.
    Source
    Pediatr Blood Cancer. 2010 Aug;55(2):314-7. Link to article on publisher's website
    DOI
    10.1002/pbc.22537
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43328
    PubMed ID
    20582973
    Notes

    Talia Pindyck participated in this study as a medical student as part of the Senior Scholars research program at the University of Massachusetts Medical School.

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    Link to article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1002/pbc.22537
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