Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Chediak-Higashi syndrome (CHS) is a rare genetic disorder that can cause pigmentary changes in skin, hair and eyes, easy bruising, weaker immune responses, and neurological issues secondary to abnormalities in lysosomal-related organelles. CHS arises due to variants in the LYST gene. Discerning these variants is challenging because LYST is large and its exact role is unknown. In this study, we’ve identified new variants within LYST and, by organizing previously identified disease-causing variants, elucidated how different LYST variants affect CHS clinical presentation. Utilizing standardized set of guidelines for variant interpretation, we categorized them more accurately, enabling quicker diagnoses and better medical care for patients. (By Dr. May Christine V Malicdan, https://jmg.bmj.com/content/early/2023/10/03/jmg-2023-109420 )

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