report RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia

被引：2

作者：

Gu, Chunyu ^{[1
,2
]}

Wang, Hong ^{[2
,3
]}

Shu, Jianbo ^{[2
,4
,5
]}

Zheng, Jie ^{[2
]}

Li, Dong ^{[2
,3
]}

Cai, Chunquan ^{[2
,4
,5
,6
]}

Zhang, Peiyuan ^{[2
,3
]}

机构：

[1] Tianjin Med Univ, Grad Coll, 22 Qixiangtai Rd, Tianjin 300070, Peoples R China

[2] Tianjin Univ, Childrens Hosp, Tianjin Childrens Hosp, 238 Longyan Rd, Tianjin 300134, Peoples R China

[3] Tianjin Childrens Hosp, Med Dept Neurol, 238 Longyan Rd, Tianjin 300134, Peoples R China

[4] Tianjin Pediat Res Inst, 238 Longyan Rd, Tianjin 300134, Peoples R China

[5] Tianjin Key Lab Birth Defects Prevent & Treatment, 238 Longyan Rd, Tianjin 300134, Peoples R China

[6] Tianjin Childrens Hosp, Dept Neurosurg, 238 Longyan Rd, Tianjin 300134, Peoples R China

来源：

CLINICA CHIMICA ACTA | 2021年 / 523卷

关键词：

Ataxia-telangiectasia; ATM; RNA sequencing; Whole exome sequencing; Dual-omics;

D O I：

10.1016/j.cca.2021.08.026

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

ABSTR A C T Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystem disorder characterized by pro-gressive cerebellar ataxia, oculo-cutaneous telangiectasia, a tendency to malignancies and variable immunode-ficiency. Here we described a 5-year-old girl with atypical A-T symptoms. And 2 different ATM variants c.5939_5948del in exon 40 and c.2639-384A > G in intron 17 were detected by whole exome sequencing (WES) combined with RNA sequencing (RNA-seq). The variant spectrum of ATM was expanded. RNA-seq makes up for deficiencies of WES. We proposed a new approach, a dual-omics that combines RNA-seq with WES, for the diagnosis of genetic diseases. Moreover, our study discussed the phenotypic heterogeneity of A-T among family members as well as individuals. For children with recurrent infections and immunodeficiency, we suggested focusing on A-T after the exclusion of other potential diseases.

引用

页码：6 / 9

页数：4

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