Here I present: “Chediak-Higashi Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.
In Chédiak–Higashi syndrome (CHS), the lysosomal trafficking regulator (LYST) gene is mutated, leading to disruption of protein synthesis as well as the storage and secretory function of lysosomal granules in white blood cells. This results in defective white blood cell function with enlarged vesicles. This syndrome also leads to neutropenia and phagocyte bactericidal dysfunction due to impaired chemotaxis.
Lysosomal trafficking regulator (LYST) is a vesicular transport protein associated with Chédiak–Higashi syndrome type-1 (CHS1) on cytogenetic location 1q42.3 and genomic coordinates 1:235,661,031-235,883,713 . The screenshot of the (LYST) gene is shown BELOW of the 222,683 bp (base pairs) of DNA sequence length.
