{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:44:26Z","timestamp":1740149066851,"version":"3.37.3"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,8,10]],"date-time":"2021-08-10T00:00:00Z","timestamp":1628553600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,8,10]],"date-time":"2021-08-10T00:00:00Z","timestamp":1628553600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"The National Key Research and Development Program of China","award":["2018YFC1002200"],"award-info":[{"award-number":["2018YFC1002200"]}]},{"DOI":"10.13039\/501100004829","name":"Department of Science and Technology of Sichuan Province","doi-asserted-by":"publisher","award":["2020YFS0095"],"award-info":[{"award-number":["2020YFS0095"]}],"id":[{"id":"10.13039\/501100004829","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a novel p.(Phe1583Leufs*10) variant in <jats:italic>USH2A,<\/jats:italic> which met the needs of prenatal diagnosis of the patient's mother<jats:italic>.<\/jats:italic><\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Genomic DNA obtained from a five-year-old girl with hearing loss was analyzed via the hearing loss-targeted gene panels. We identified the compound heterozygous variants c.8559-2A&gt;G and c.4749delT in Usher syndrome type 2A (<jats:italic>USH2A<\/jats:italic>) gene as the underlying cause of the patient; the former variation has been reported in the literature, but not the latter. The parents of the girl were heterozygous carriers. The two variants were classified as pathogenic. Based on these findings, amniotic fluid samples were used for prenatal diagnosis of the couple's fetus, which was found to carry c.4749delT but not c.8559-2A&gt;G variation. During the follow-up period of more than 9\u00a0months after the birth of the fetus, it was confirmed that the infant was healthy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The results of the present study identified two compound heterozygous <jats:italic>USH2A<\/jats:italic> variants in a patient with hearing loss and reported a novel <jats:italic>USH2A<\/jats:italic> variant which expands the spectrum of <jats:italic>USH2A<\/jats:italic> variants in USH.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01052-4","type":"journal-article","created":{"date-parts":[[2021,8,10]],"date-time":"2021-08-10T11:02:50Z","timestamp":1628593370000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report"],"prefix":"10.1186","volume":"14","author":[{"given":"Cong","family":"Zhou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanbing","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanling","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,8,10]]},"reference":[{"key":"1052_CR1","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1038\/ejhg.2011.15","volume":"19","author":"HJ Bolz","year":"2011","unstructured":"Bolz HJ, Roux AF. Clinical utility gene card for: usher syndrome. Eur J Hum Genet. 2011;19:931.","journal-title":"Eur J Hum Genet"},{"key":"1052_CR2","first-page":"417217","volume":"66","author":"JM Mill\u00e1n","year":"2011","unstructured":"Mill\u00e1n JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C. An update on the genetics of usher syndrome. J Ophthalmol. 2011;66:417217.","journal-title":"J Ophthalmol"},{"key":"1052_CR3","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1001\/jamaophthalmol.2014.4498","volume":"133","author":"F Blanco-Kelly","year":"2015","unstructured":"Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, L\u00f3pez-Molina MI, Gim\u00e9nez A, Garc\u00eda-Sandoval B, Mill\u00e1n JM, Ayuso C. Clinical aspects of usher syndrome and the USH2A gene in a cohort of 433 patients. JAMA Ophthalmol. 2015;133:157\u201364.","journal-title":"JAMA Ophthalmol"},{"key":"1052_CR4","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1038\/sj.ejhg.5200491","volume":"8","author":"B Dreyer","year":"2000","unstructured":"Dreyer B, Tranebjaerg L, Rosenberg T, Weston MD, Kimberling WJ, Nilssen O. Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet. 2000;8:500\u20136.","journal-title":"Eur J Hum Genet"},{"key":"1052_CR5","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1002\/humu.9259","volume":"24","author":"RJ Pennings","year":"2004","unstructured":"Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH, Cremers FP, Cremers CW, Kimberling WJ, Kremer H. USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat. 2004;24:185.","journal-title":"Hum Mutat"},{"key":"1052_CR6","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1002\/humu.20513","volume":"28","author":"D Baux","year":"2007","unstructured":"Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat. 2007;28:781\u20139.","journal-title":"Hum Mutat"},{"issue":"5","key":"1052_CR7","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensusrecommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"key":"1052_CR8","doi-asserted-by":"crossref","unstructured":"Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Expert specification of the ACMG\/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018; 39(11):1593\u2013613.","DOI":"10.1002\/humu.23630"},{"key":"1052_CR9","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1007\/s10096-011-1402-z","volume":"31","author":"B Faucher","year":"2012","unstructured":"Faucher B, Miermont F, Ranque S, Franck J, Piarroux R. Optimization of Toxoplasma gondii DNA extraction from amniotic fluid using NucliSENS easyMAG and comparison with QIAamp DNA minikit. Eur J Clin Microbiol Infect Dis. 2012;31:1035\u20139.","journal-title":"Eur J Clin Microbiol Infect Dis"},{"issue":"10","key":"1052_CR10","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1038\/jhg.2010.83","volume":"55","author":"H Nakanishi","year":"2010","unstructured":"Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S. Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes. J Hum Genet. 2010;55(10):701\u20133.","journal-title":"J Hum Genet"},{"key":"1052_CR11","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1001\/archopht.116.2.165","volume":"116","author":"A Edwards","year":"1998","unstructured":"Edwards A, Fishman GA, Anderson RJ, Grover S, Derlacki DJ. Visual acuity and visual field impairment in usher syndrome. Arch Ophthalmol. 1998;116:165\u20138.","journal-title":"Arch Ophthalmol"},{"key":"1052_CR12","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1097\/01.iae.0000246675.88911.2c","volume":"27","author":"GA Fishman","year":"2007","unstructured":"Fishman GA, Bozbeyoglu S, Massof RW, Kimberling W. Natural course of visual field loss in patients with type 2 usher syndrome. Retina. 2007;27:601\u20138.","journal-title":"Retina"},{"key":"1052_CR13","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1002\/(SICI)1096-8628(19990924)89:3<158::AID-AJMG6>3.0.CO;2-#","volume":"89","author":"BJ Keats","year":"1999","unstructured":"Keats BJ, Corey DP. The usher syndromes. Am J Med Genet. 1999;89:158\u201366.","journal-title":"Am J Med Genet"},{"key":"1052_CR14","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1056\/NEJMra1711801","volume":"379","author":"DR Adams","year":"2018","unstructured":"Adams DR, Eng CM. Next-generation sequencing to diagnose suspected genetic disorders. N Engl J Med. 2018;379:1353\u201362.","journal-title":"N Engl J Med"},{"key":"1052_CR15","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1016\/j.bbadis.2014.11.020","volume":"1852","author":"P Mathur","year":"2015","unstructured":"Mathur P, Yang J. Usher syndrome: hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta. 2015;1852:406\u201320.","journal-title":"Biochim Biophys Acta"},{"key":"1052_CR16","first-page":"2067","volume":"14","author":"H Dai","year":"2008","unstructured":"Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, Li Y. Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. Mol Vis. 2008;14:2067\u201375.","journal-title":"Mol Vis"},{"key":"1052_CR17","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1186\/1750-1172-6-65","volume":"6","author":"G Garcia-Garcia","year":"2011","unstructured":"Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E. mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis. 2011;6:65.","journal-title":"Orphanet J Rare Dis"},{"key":"1052_CR18","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/j.exer.2014.02.018","volume":"122","author":"E Lenassi","year":"2014","unstructured":"Lenassi E, Saihan Z, Bitner-Glindzicz M, Webster AR. The effect of the common c. 2299 delG mutation in USH2A on RNA splicing. Exp Eye Res. 2014;122:9\u201312.","journal-title":"Exp Eye Res"},{"issue":"7","key":"1052_CR19","doi-asserted-by":"publisher","first-page":"19","DOI":"10.3390\/genes9070360","volume":"9","author":"L Wang","year":"2018","unstructured":"Wang L, Zhang J, Chen N, Wang L, Zhang F, Ma Z, Li G, Yang L. Application of whole exome and targeted panel sequencing in the clinical molecular diagnosis of 319 Chinese families with inherited retinal dystrophy and comparison study. Genes. 2018;9(7):19.","journal-title":"Genes"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-021-01052-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-021-01052-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-021-01052-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,10]],"date-time":"2021-08-10T11:04:54Z","timestamp":1628593494000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-021-01052-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,10]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["1052"],"URL":"https:\/\/doi.org\/10.1186\/s12920-021-01052-4","relation":{},"ISSN":["1755-8794"],"issn-type":[{"type":"electronic","value":"1755-8794"}],"subject":[],"published":{"date-parts":[[2021,8,10]]},"assertion":[{"value":"25 December 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 August 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Medical Ethics Committee of West China Second University Hospital of Sichuan University, Written informed consent was obtained from the parents, who agreed to join this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient\u2019s parents provided the written consent for the case report to be published. Informed consent from parents regarding data and clinical details for publication has been obtained.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"200"}}