{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T07:05:17Z","timestamp":1785395117590,"version":"3.55.0"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T00:00:00Z","timestamp":1690329600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"Background<\/jats:title>Ataxia-telangiectasia (A-T) is a multisystem genetic disorder involving ataxia, oculocutaneous telangiectasia, and immunodeficiency caused by biallelic pathogenic variants in the ATM<\/jats:italic> gene. To date, most ATM<\/jats:italic> variants have been reported in the Caucasian population, and few studies have focused on the genotype\u2013phenotype correlation of A-T in the Chinese population. We herein present a Chinese patient with A-T who carries compound heterozygous variants in the ATM<\/jats:italic> gene and conducted a literature review for A-T in China.<\/jats:p><\/jats:sec>Case presentation<\/jats:title>A 7-year-old Chinese girl presented with growth retardation, ataxia, medium ocular telangiectasia, cerebellar atrophy, and elevated serum alpha-fetoprotein (AFP) level, which supported the suspicion of A-T. Notably, the serum levels of immunoglobulins were all normal, ruling out immunodeficiency. Exome sequencing and Sanger sequencing revealed two likely pathogenic ATM<\/jats:italic> variants, namely NM_000051.4: c.4195dup (p.Thr1399Asnfs*<\/jats:sup>15) and c.6006 + 1G&gt;T (p.?), which were inherited from her father and mother, respectively. From the Chinese literature review, we found that there was a marked delay in the diagnosis of A-T, and 38.9% (7\/18) of A-T patients did not suffer from immunodeficiency in China. No genotype\u2013phenotype correlation was observed in this group of A-T patients.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>These results extend the genotype spectrum of A-T in the Chinese population and imply that the diagnosis of A-T in China should be improved.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2023.1228810","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T12:16:06Z","timestamp":1690373766000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review"],"prefix":"10.3389","volume":"14","author":[{"given":"Li","family":"Shao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoyi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbo","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaonan","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,7,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: a review","volume":"11","author":"Rothblum-Oviatt","year":"2016","journal-title":"Orphanet J Rare Dis."},{"key":"B2","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1111\/pai.13020","article-title":"Ataxia-telangiectasia: a review of clinical features and molecular pathology","volume":"30","author":"Amirifar","year":"2019","journal-title":"Pediatr Allergy Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1080\/1744666X.2020.1810570","article-title":"Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management","volume":"16","author":"Amirifar","year":"2020","journal-title":"Expert Rev Clin Immunol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jns.2005.09.001","article-title":"Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia","volume":"241","author":"Jiang","year":"2006","journal-title":"J Neurol Sci."},{"key":"B5","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1007\/s12017-013-8240-3","article-title":"Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients","volume":"15","author":"Huang","year":"2013","journal-title":"Neuromolecular Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1655","DOI":"10.3892\/mmr.2019.10402","article-title":"Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T","volume":"20","author":"Chen","year":"2019","journal-title":"Mol Med Rep."},{"key":"B7","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/j.cca.2021.08.026","article-title":"RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia","volume":"523","author":"Gu","year":"2021","journal-title":"Clin Chim Acta."},{"key":"B8","doi-asserted-by":"publisher","first-page":"2387","DOI":"10.12998\/wjcc.v8.i11.2387","article-title":"Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report","volume":"8","author":"Li","year":"2020","journal-title":"World J Clin Cases."},{"key":"B9","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1007\/s00381-019-04399-3","article-title":"Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report","volume":"36","author":"Zhang","year":"2020","journal-title":"Childs Nerv Syst."},{"key":"B10","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1007\/s10048-021-00639-4","article-title":"Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia","volume":"22","author":"Shalash","year":"2021","journal-title":"Neurogenetics."},{"key":"B11","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1136\/archdischild-2016-310477","article-title":"Ataxia telangiectasia: presentation and diagnostic delay","volume":"102","author":"Devaney","year":"2017","journal-title":"Arch Dis Child."},{"key":"B12","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1038\/nature01368","article-title":"Damage activates ATM through intermolecular autophosphorylation and dimer dissociation","volume":"421","author":"Bakkenist","year":"2003","journal-title":"Nature."},{"key":"B13","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1016\/j.jaci.2013.01.053","article-title":"Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity","volume":"131","author":"Driessen","year":"2013","journal-title":"J Allergy Clin Immunol."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2023.1228810\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T12:16:09Z","timestamp":1690373769000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2023.1228810\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,26]]},"references-count":13,"alternative-id":["10.3389\/fneur.2023.1228810"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2023.1228810","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,26]]},"article-number":"1228810"}}