LYST gene sequence analysis for Chediak-Higashi Syndrome
POSITIVE: Sequence analysis of the coding region of the LYST gene identified two heterozygous mutations consistent with a diagnosis of Chediak-Higashi Syndrome.
Chediak-Higashi Disease:
Rare autosomal recessive, mutation of CHS1 (LYST, 1q42.1-q42.2) gene for lysosomal trafficking regulator protein
Lysosomes of leukocytes and fibroblasts, dense bodies of platelets, azurophilic granules of neutrophils, and melanosomes of melanocytes affected.
Infection, bleeding,Hypopigmentation, neurocognitive problem.
Diagnosis: Giant granules in granulocytes and lymphocytes, molecular tests
Usually die at first decade w/o BMT due to opportunistic and pyrogenic infections or an accelerated lymphomalike phase (Hemophagocytic lymphohistiocytosis).
POSITIVE: Sequence analysis of the coding region of the LYST gene identified two heterozygous mutations consistent with a diagnosis of Chediak-Higashi Syndrome.
Chediak-Higashi Disease:
Rare autosomal recessive, mutation of CHS1 (LYST, 1q42.1-q42.2) gene for lysosomal trafficking regulator protein
Lysosomes of leukocytes and fibroblasts, dense bodies of platelets, azurophilic granules of neutrophils, and melanosomes of melanocytes affected.
Infection, bleeding,Hypopigmentation, neurocognitive problem.
Diagnosis: Giant granules in granulocytes and lymphocytes, molecular tests
Usually die at first decade w/o BMT due to opportunistic and pyrogenic infections or an accelerated lymphomalike phase (Hemophagocytic lymphohistiocytosis).