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Article

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

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021

Gu Chunyu, Wang Hong, Shu Jianbo, Zheng Jie, Li Dong, Cai Chunquan, Zhang Peiyuan

Abstract excerpt

Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, a tendency to malignancies and variable immunodeficiency. 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...

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Identifiers

PMID: 34453918
DOI: 10.1016/j.cca.2021.08.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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