Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein |
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Authors: | Karim MA; Nagle DL; Kandil HH; Burger J; Moore KJ; Spritz RA |
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Institution: | Department of Medical Genetics, University of Wisconsin, Madison 53706, USA. |
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Abstract: | Chediak-Higashi syndrome (CHS) is a rare, usually fatal, autosomal
recessive disorder characterized by severe immunologic defects, reduced
pigmentation, progressive neurologic dysfunction and a bleeding diathesis.
The hallmark of CHS is giant organelles and giant granules in many
different cell types, most likely the result of defective trafficking of
specific organellar and granular proteins necessary for the normal genesis,
structure or function of these cytoplasmic components. The CHS1 gene has
recently been identified and shown to be homologous to the beige locus of
the mouse; however, there has been disagreement as to the length of the
functional CHS1 mRNA and protein. Here we report homozygous CHS1 gene
mutations in two of the original probands we used to map the gene to
1q42-q44. One of these, a frameshift at codon 3197, supports our assertion
that the functional CHS protein is a predicted 3801 amino acid polypeptide
encoded by a 13.5 kb mRNA.
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