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

doi:10.1136/jmg-2023-109420

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Article

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

Journal of medical genetics - 21 Feb 2024

Morimoto Marie, Nicoli Elena-Raluca, Kuptanon Chulaluck, Roney Joseph C, Serra-Vinardell Jenny, Sharma Prashant, Adams David R, Gallin John I, Holland Steven M, Rosenzweig Sergio D, Barbot Jose, Ciccone Carla, Huizing Marjan, Toro Camilo, Gahl William A, Introne Wendy J, Malicdan May Christine V

Abstract excerpt

INTRODUCTION: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYST cause CHS. LYST encodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function. METHODS: To further our...

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PMID: 37788905
DOI: 10.1136/jmg-2023-109420

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