Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

Abstract Background Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mo...

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Bibliographic Details
Main Authors: Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao, Tianli Fan
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Medical Genetics
Subjects:
Chediak-Higashi syndrome
LYST gene
Compound heterozygote
Amplicon sequencing
Two-generation pedigree
Online Access:https://doi.org/10.1186/s12881-019-0922-8

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