Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome.
- VernacularTitle:一个Chediak-Higashi综合征家系的临床特征及基因突变分析
- Author:
Jiangang ZHAO
1
;
Zhi WANG
;
Liyu ZHANG
;
Hongli SUN
;
Ying YANG
Author Information
- Publication Type:Case Reports
- MeSH: Chediak-Higashi Syndrome; genetics; Female; Genetic Testing; Humans; Infant; Infant, Newborn; Mutation; Pedigree; Vesicular Transport Proteins; genetics
- From: Chinese Journal of Medical Genetics 2018;35(2):188-192
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).
METHODSClinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene.
RESULTSBoth patients presented immunodeficiency, oculocutaneous albinism, and acidophilic inclusion body on bone marrow and blood smears. A homozygous c.6077_6078insA (p.Tyr2026Terfs) mutation was detected in the LYST gene in both patients.
CONCLUSIONGenetic testing can play an important role in the diagnosis of CHS.
