桑德霍夫病
先证者
桑格测序
复合杂合度
遗传学
生物
嵌合体
嗜酸性粒细胞增多症
基因
免疫学
分子生物学
突变
作者
Haixia Zhu,Wenlin Wu,Wenxiong Chen,Yiru Zeng,Yuan Zhao,Xiuying Wang,Xiaojing Li
出处
期刊:PubMed
日期:2022-10-10
卷期号:39 (10): 1124-1128
标识
DOI:10.3760/cma.j.cn511374-20211022-00843
摘要
To explore the genetic basis for a girl featuring epilepsy, developmental delay and regression.Clinical data of the patient was collected. Activities of hexosaminidase A (Hex A) and hexosaminidase A&B (Hex A&B) in blood leukocytes were determined by using a fluorometric assay. Peripheral blood samples were collected from the proband and six members from her pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing.Enzymatic studies of the proband have shown reduced plasma Hex A and Hex A&B activities. Genetic testing revealed that she has carried c.1260_1263del and c.1601G>C heterozygous compound variants of the HEXB gene. Her mother, brother and sister were heterozygous carriers of c.1260_1263del, while her father, mother, three brothers and sister did not carry the c.1601G>C variant, suggesting that it has a de novo origin. Increased eosinophils were discovered upon cytological examination of peripheral blood and bone marrow samples.The compound heterozygous variants of c.1260_1263del and c.1601G>C of the HEXB gene probably underlay the Sandhoff disease in this child. Eosinophilia may be noted in infantile Sandhoff disease.
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