Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome
OBJECTIVE: To explore the genetic basis for a child featuring Chediak-Higashi syndrome (CHS).
METHODS: Clinical manifestations and results of auxiliary examination of the proband were analyzed. The proband was subjected to whole exome sequencing, and the results were verified by Sanger sequencing. Correlation between the genotype and clinical phenotype was analyzed.
RESULTS: The proband showed partial skin albinism, recurrent respiratory infection and other immune deficiencies. Genetic testing showed that he has harbored c.2437C>T (p.Arg813*) and c.6077dupA (p.Tyr2026fs) (NM_000081) compound heterozygous variants of the LYST gene, for which his parents were both carriers. Neither variant was reported previously. HEAT repeats domain was frequently associated with more severe phenotype of CHS (81.6%), whilst no variant has been found in the PH_BEACH domain.
CONCLUSION: This study has enriched the spectrum of LYST gene variants associated with CHS and enabled clinical diagnosis, prenatal diagnosis and prognostic evaluation for the child.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:39 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 39(2022), 11 vom: 10. Nov., Seite 1257-1261 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Wang, Conghui [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 02.11.2022 Date Revised 02.11.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20211113-00904 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM348312725 |
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| 245 | 1 | 0 | |a Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
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| 500 | |a Date Completed 02.11.2022 | ||
| 500 | |a Date Revised 02.11.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To explore the genetic basis for a child featuring Chediak-Higashi syndrome (CHS) | ||
| 520 | |a METHODS: Clinical manifestations and results of auxiliary examination of the proband were analyzed. The proband was subjected to whole exome sequencing, and the results were verified by Sanger sequencing. Correlation between the genotype and clinical phenotype was analyzed | ||
| 520 | |a RESULTS: The proband showed partial skin albinism, recurrent respiratory infection and other immune deficiencies. Genetic testing showed that he has harbored c.2437C>T (p.Arg813*) and c.6077dupA (p.Tyr2026fs) (NM_000081) compound heterozygous variants of the LYST gene, for which his parents were both carriers. Neither variant was reported previously. HEAT repeats domain was frequently associated with more severe phenotype of CHS (81.6%), whilst no variant has been found in the PH_BEACH domain | ||
| 520 | |a CONCLUSION: This study has enriched the spectrum of LYST gene variants associated with CHS and enabled clinical diagnosis, prenatal diagnosis and prognostic evaluation for the child | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
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| 700 | 1 | |a Li, Qianqian |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Xuechao |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Ganye |e verfasserin |4 aut | |
| 700 | 1 | |a Kong, Xiangdong |e verfasserin |4 aut | |
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