{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T13:05:03Z","timestamp":1771333503902,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,12,12]],"date-time":"2021-12-12T00:00:00Z","timestamp":1639267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003819","name":"Natural Science Foundation of Hubei Province","doi-asserted-by":"publisher","award":["2017CFB322"],"award-info":[{"award-number":["2017CFB322"]}],"id":[{"id":"10.13039\/501100003819","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>Both Charcot\u2010Marie\u2010Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA\u2010V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens. Herein, we reported a Chinese family with infantile\u2010onset CMT2D\/dSMA\u2010V.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical evaluation and laboratory examination were performed in our proband, the older sister from this family, and trio exome sequencing (ES) was conducted on the proband and her parents, followed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel <jats:italic>GARS1<\/jats:italic> mutation (c.997G&gt;C, p.E333Q; NM_002047) was identified in this patient and her younger sister but not in her parents; thus, it is presumed that this mutation is inherited from a germline mosaic parent. The younger sister began to exhibit weakness of her hands and feet at the age of 1\u00a0year old.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of infantile CMT2D\/dSMA\u2010V in China. Our study increases the number of infantile\u2010onset cases, as well as reported pathogenic variants in the <jats:italic>GARS1<\/jats:italic> gene, and highlights the important role of exome sequencing in the clinical diagnosis of disease and enabling subsequent prenatal diagnosis. Our study reminds us to consider the possibility of parent germline mosaicism in the subsequent prenatal genetic diagnosis when identifying a de novo variant.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1846","type":"journal-article","created":{"date-parts":[[2021,12,12]],"date-time":"2021-12-12T16:55:05Z","timestamp":1639328105000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Infantile\u2010onset CMT2D\/dSMA\u2010V in a Chinese family with parental germline mosaicism for a novel mutation in the <i>GARS1<\/i> gene"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5732-4266","authenticated-orcid":false,"given":"Yufeng","family":"Huang","sequence":"first","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Bi","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peiwei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Yu","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sukun","family":"Luo","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Tan","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhisheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6275-1219","authenticated-orcid":false,"given":"Xuelian","family":"He","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; 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