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A 8-year-old boy with history of recurrent cutaneous Staphylococcal infections from infancy is referred for further evaluation secondary to an abnormal reported peripheral blood smear review during a recent hospital admission. There is no preceding history of bleeding. Physical examination reveals silver colored hair and mild splenomegaly with no lymphadenopathy. Laboratory workup shows leukocyte count of 6. 700/ J.LL. hemoglobin 12.3 g/dl. and platelet count 376.000/J.LL. Peripheral blood smear is shown below.
What is the underlying genetic defect in CHS?
- Mutation in LYST gene
- Mutation in ELA2 gene
- Mutation in SBDS gene
- Mutation in DKCl gene
- Mutation in DBA gene
Medicine
A. The underlying defect in CHS is a mutation in lysosomal trafficking regulator gene (LYST), located on chromosome 1q, which results in defective organellar protein trafficking and lyso somal function. Mutations in ELA2 are associated with cyclic neutropenia and severe congenital neu tropenia, while mutations in SBDS are associated with Shwachman-Diamond syndrome. Dyskeratosis congenita and Diamond-Blackfan anemia are associated with mutations in DKCl and DBA, respec tively (Nature. 1996;382(6588):262, Nat Genet. 1996;14(3):307).
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