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

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 mouse. To...

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Autores principales: Song, Yinsen, Dong, Zhengping, Luo, Shuying, Yang, Junmei, Lu, Yuebing, Gao, Bo, Fan, Tianli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943916/
https://www.ncbi.nlm.nih.gov/pubmed/31906877
http://dx.doi.org/10.1186/s12881-019-0922-8
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author Song, Yinsen
Dong, Zhengping
Luo, Shuying
Yang, Junmei
Lu, Yuebing
Gao, Bo
Fan, Tianli
author_facet Song, Yinsen
Dong, Zhengping
Luo, Shuying
Yang, Junmei
Lu, Yuebing
Gao, Bo
Fan, Tianli
author_sort Song, Yinsen
collection PubMed
description 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 mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. CASE PRESENTATION: Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination. Giant intracytoplasmic inclusions were observed in the bone marrow examination, suggesting the diagnosis of CHS. Amplicon sequencing was performed to detect pathogenic mutation in LYST gene. The result was confirmed by two-generation pedigree analysis base on sanger sequencing. CONCLUSION: A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A > G and an intron mutation c.4863-4G > A, was identified from the patient by using amplicon sequencing. The missense mutation is reported for the first time. Two-generation pedigree analysis showed these two mutations were inherited from the patient’s parents, respectively. Our result demonstrated that amplicon sequencing has great potential for accelerating and improving the diagnosis of rare genetic diseases.
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spelling pubmed-69439162020-01-07 Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome Song, Yinsen Dong, Zhengping Luo, Shuying Yang, Junmei Lu, Yuebing Gao, Bo Fan, Tianli BMC Med Genet Case Report 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 mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. CASE PRESENTATION: Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination. Giant intracytoplasmic inclusions were observed in the bone marrow examination, suggesting the diagnosis of CHS. Amplicon sequencing was performed to detect pathogenic mutation in LYST gene. The result was confirmed by two-generation pedigree analysis base on sanger sequencing. CONCLUSION: A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A > G and an intron mutation c.4863-4G > A, was identified from the patient by using amplicon sequencing. The missense mutation is reported for the first time. Two-generation pedigree analysis showed these two mutations were inherited from the patient’s parents, respectively. Our result demonstrated that amplicon sequencing has great potential for accelerating and improving the diagnosis of rare genetic diseases. BioMed Central 2020-01-06 /pmc/articles/PMC6943916/ /pubmed/31906877 http://dx.doi.org/10.1186/s12881-019-0922-8 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Song, Yinsen
Dong, Zhengping
Luo, Shuying
Yang, Junmei
Lu, Yuebing
Gao, Bo
Fan, Tianli
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
title Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
title_full Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
title_fullStr Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
title_full_unstemmed Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
title_short Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
title_sort identification of a compound heterozygote in lyst gene: a case report on chediak-higashi syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943916/
https://www.ncbi.nlm.nih.gov/pubmed/31906877
http://dx.doi.org/10.1186/s12881-019-0922-8
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