Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data

IF 4.5 3区 医学 Q2 IMMUNOLOGY
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引用次数: 0

Abstract

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease characterised by early onset stroke, recurrent fever, and diverse vascular pathologies, caused by loss-of-function homozygous or compound heterozygous variants of ADA2. This research aimed to determine the carrier frequency and expected incidence of DADA2 in China, using massive exome sequencing (ES) data. A total of 50 likely pathogenic/pathogenic variants (LP/PVs) were identified among 69,413 Chinese individuals, including 20 novel and rare variants (<0.0022 % allele frequency), expanding the known spectrum of PVs in ADA2. The overall carrier frequency in the Chinese population was 1.05 % (732/69,413) and the estimated incidence of DADA2 was approximately one in 92,251 individuals. The present study provides an accurate estimation of the prevalence of DADA2 in China, supporting genetic counseling, early diagnosis treatment, and prognostic evaluation.
基于大规模外显子组测序数据估算中国人群腺苷脱氨酶 2 缺乏症的携带者频率和发病率。
腺苷脱氨酶2缺乏症(DADA2)是一种常染色体隐性自身炎症性疾病,以早发中风、反复发热和多种血管病变为特征,由ADA2的功能缺失同卵或复合杂合变异引起。本研究旨在利用大规模外显子组测序(ES)数据,确定中国DADA2的携带者频率和预期发病率。在69 413名中国个体中,共鉴定出50个可能的致病/致病变异(LP/PVs),其中包括20个新型罕见变异(
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来源期刊
Clinical immunology
Clinical immunology 医学-免疫学
CiteScore
12.30
自引率
1.20%
发文量
212
审稿时长
34 days
期刊介绍: Clinical Immunology publishes original research delving into the molecular and cellular foundations of immunological diseases. Additionally, the journal includes reviews covering timely subjects in basic immunology, along with case reports and letters to the editor.
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