{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:54:41Z","timestamp":1791165281424,"version":"4.1.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,9,25]],"date-time":"2014-09-25T00:00:00Z","timestamp":1411603200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1007\/s00438-014-0915-4","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T06:20:58Z","timestamp":1411539658000},"page":"353-363","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology"],"prefix":"10.1007","volume":"290","author":[{"given":"Ling-Hui","family":"Qu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Wei","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi-Ying","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng-Qin","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,9,25]]},"reference":[{"key":"915_CR1","doi-asserted-by":"publisher","first-page":"e55","DOI":"10.1136\/jmg.2006.041764","volume":"43","author":"E Aller","year":"2006","unstructured":"Aller E, Jaijo T, Beneyto M, Najera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antinolo G, Valverde D, Moreno F, Vilela C, Collado D, Perez-Garrigues H, Navea A, Millan JM (2006) Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet 43:e55","journal-title":"J Med Genet"},{"key":"915_CR2","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 (2007) Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat 28:781\u2013789","journal-title":"Hum Mutat"},{"key":"915_CR3","doi-asserted-by":"crossref","unstructured":"Baux D, Blanchet C, Hamel C, Meunier I, Larrieu L, Faugere V, Vache C, Castorina P, Puech B, Bonneau D, Malcolm S, Claustres M, Roux AF (2014) Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. hum mutat","DOI":"10.1002\/humu.22608"},{"key":"915_CR4","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1002\/mgg3.25","volume":"2","author":"T Besnard","year":"2014","unstructured":"Besnard T, Garcia-Garcia G, Baux D, Vache C, Faugere V, Larrieu L, Leonard S, Millan JM, Malcolm S, Claustres M, Roux AF (2014) Experience of targeted Usher exome sequencing as a clinical test. Mol Genet Genomic Med 2:30\u201343","journal-title":"Mol Genet Genomic Med"},{"key":"915_CR5","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1034\/j.1399-0004.2003.00058.x","volume":"63","author":"DC Blaydon","year":"2003","unstructured":"Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M (2003) The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. Clin Genet 63:303\u2013307","journal-title":"Clin Genet"},{"key":"915_CR6","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1097\/WCO.0b013e32834ef8b2","volume":"25","author":"C Bonnet","year":"2012","unstructured":"Bonnet C, El-Amraoui A (2012) Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol 25:42\u201349","journal-title":"Curr Opin Neurol"},{"key":"915_CR7","doi-asserted-by":"publisher","first-page":"R89","DOI":"10.1186\/gb-2011-12-9-r89","volume":"12","author":"Z Brownstein","year":"2011","unstructured":"Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB (2011) Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol 12:R89","journal-title":"Genome Biol"},{"key":"915_CR8","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1093\/hmg\/ddn421","volume":"18","author":"AV Cideciyan","year":"2009","unstructured":"Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K (2009) ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet 18:931\u2013941","journal-title":"Hum Mol Genet"},{"key":"915_CR9","doi-asserted-by":"publisher","first-page":"e65574","DOI":"10.1371\/journal.pone.0065574","volume":"8","author":"M Corton","year":"2013","unstructured":"Corton M, Nishiguchi KM, Avila-Fernandez A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C (2013) Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. PLoS ONE 8:e65574","journal-title":"PLoS ONE"},{"key":"915_CR10","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 (2008) Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. Mol Vis 14:2067\u20132075","journal-title":"Mol Vis"},{"key":"915_CR11","doi-asserted-by":"publisher","first-page":"1812","DOI":"10.1172\/JCI39715","volume":"120","author":"I Ebermann","year":"2010","unstructured":"Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schafer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nurnberg G, Nurnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ (2010) PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest 120:1812\u20131823","journal-title":"J Clin Invest"},{"key":"915_CR12","doi-asserted-by":"publisher","first-page":"4158","DOI":"10.1167\/iovs.13-11672","volume":"54","author":"Q Fu","year":"2013","unstructured":"Fu Q, Wang F, Wang H, Xu F, Zaneveld JE, Ren H, Keser V, Lopez I, Tuan HF, Salvo JS, Wang X, Zhao L, Wang K, Li Y, Koenekoop RK, Chen R, Sui R (2013) Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 54:4158\u20134166","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"915_CR13","doi-asserted-by":"publisher","first-page":"2324","DOI":"10.1016\/j.ophtha.2013.04.016","volume":"120","author":"K Fujinami","year":"2013","unstructured":"Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR (2013) The clinical effect of homozygous ABCA4 alleles in 18 patients. Ophthalmology 120:2324\u20132331","journal-title":"Ophthalmology"},{"key":"915_CR14","doi-asserted-by":"publisher","first-page":"6481","DOI":"10.1073\/pnas.1130432100","volume":"100","author":"D Gibbs","year":"2003","unstructured":"Gibbs D, Kitamoto J, Williams DS (2003) Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein. Proc Natl Acad Sci U S A 100:6481\u20136486","journal-title":"Proc Natl Acad Sci U S A"},{"key":"915_CR15","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1016\/j.neuron.2009.04.006","volume":"62","author":"N Grillet","year":"2009","unstructured":"Grillet N, Xiong W, Reynolds A, Kazmierczak P, Sato T, Lillo C, Dumont RA, Hintermann E, Sczaniecka A, Schwander M, Williams D, Kachar B, Gillespie PG, Muller U (2009) Harmonin mutations cause mechanotransduction defects in cochlear hair cells. Neuron 62:375\u2013387","journal-title":"Neuron"},{"key":"915_CR16","doi-asserted-by":"publisher","first-page":"e63832","DOI":"10.1371\/journal.pone.0063832","volume":"8","author":"XF Huang","year":"2013","unstructured":"Huang XF, Xiang P, Chen J, Xing DJ, Huang N, Min Q, Gu F, Tong Y, Pang CP, Qu J, Jin ZB (2013) Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. PLoS ONE 8:e63832","journal-title":"PLoS ONE"},{"key":"915_CR17","first-page":"553","volume":"20","author":"X Jin","year":"2014","unstructured":"Jin X, Qu LH, Meng XH, Xu HW, Yin ZQ (2014) Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology. Mol Vis 20:553\u2013560","journal-title":"Mol Vis"},{"key":"915_CR18","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1086\/323610","volume":"69","author":"T Joensuu","year":"2001","unstructured":"Joensuu T, Hamalainen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM (2001) Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 69:673\u2013684","journal-title":"Am J Hum Genet"},{"key":"915_CR19","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1136\/jmedgenet-2011-100468","volume":"49","author":"Stabej P Quesne Le","year":"2012","unstructured":"Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M (2012) Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet 49:27\u201336","journal-title":"J Med Genet"},{"key":"915_CR20","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1016\/j.ophtha.2013.09.017","volume":"121","author":"E Lenassi","year":"2014","unstructured":"Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR (2014) Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology 121:580\u2013587","journal-title":"Ophthalmology"},{"key":"915_CR21","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1007\/0-387-32442-9_48","volume":"572","author":"C Lillo","year":"2006","unstructured":"Lillo C, Kitamoto J, Williams DS (2006) Roles and interactions of usher 1 proteins in the outer retina. Adv Exp Med Biol 572:341\u2013348","journal-title":"Adv Exp Med Biol"},{"key":"915_CR22","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/ng0697-188","volume":"16","author":"XZ Liu","year":"1997","unstructured":"Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD (1997) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16:188\u2013190","journal-title":"Nat Genet"},{"key":"915_CR23","doi-asserted-by":"crossref","first-page":"6267","DOI":"10.1523\/JNEUROSCI.19-15-06267.1999","volume":"19","author":"X Liu","year":"1999","unstructured":"Liu X, Udovichenko IP, Brown SD, Steel KP, Williams DS (1999) Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci 19:6267\u20136274","journal-title":"J Neurosci"},{"key":"915_CR24","first-page":"695","volume":"19","author":"F Liu","year":"2013","unstructured":"Liu F, Li P, Liu Y, Li W, Wong F, Du R, Wang L, Li C, Jiang F, Tang Z, Liu M (2013) Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. Mol Vis 19:695\u2013701","journal-title":"Mol Vis"},{"key":"915_CR25","doi-asserted-by":"crossref","first-page":"417217","DOI":"10.1155\/2011\/417217","volume":"2011","author":"JM Millan","year":"2011","unstructured":"Millan JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C (2011) An update on the genetics of usher syndrome. J Ophthalmol 2011:417217","journal-title":"J Ophthalmol"},{"key":"915_CR26","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1111\/j.1399-0004.2009.01257.x","volume":"76","author":"H Nakanishi","year":"2009","unstructured":"Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S (2009) Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. Clin Genet 76:383\u2013391","journal-title":"Clin Genet"},{"key":"915_CR27","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1038\/jhg.2011.45","volume":"56","author":"H Nakanishi","year":"2011","unstructured":"Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, Mineta H, Minoshima S (2011) Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. J Hum Genet 56:484\u2013490","journal-title":"J Hum Genet"},{"key":"915_CR100","doi-asserted-by":"crossref","unstructured":"Pfaffl MW (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29:e45","DOI":"10.1093\/nar\/29.9.e45"},{"key":"915_CR28","doi-asserted-by":"publisher","first-page":"e28936","DOI":"10.1371\/journal.pone.0028936","volume":"7","author":"EG Puffenberger","year":"2012","unstructured":"Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE 7:e28936","journal-title":"PLoS ONE"},{"key":"915_CR29","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1038\/ng.2426","volume":"44","author":"S Riazuddin","year":"2012","unstructured":"Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM (2012) Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1\u00a0J and nonsyndromic deafness DFNB48. Nat Genet 44:1265\u20131271","journal-title":"Nat Genet"},{"key":"915_CR30","doi-asserted-by":"publisher","first-page":"1519","DOI":"10.1172\/JCI34211","volume":"118","author":"T Rio Frio","year":"2008","unstructured":"Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C (2008) Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 118:1519\u20131531","journal-title":"J Clin Invest"},{"key":"915_CR31","doi-asserted-by":"publisher","first-page":"1566","DOI":"10.1001\/archopht.120.11.1566","volume":"120","author":"C Rivolta","year":"2002","unstructured":"Rivolta C, Berson EL, Dryja TP (2002) Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch Ophthalmol 120:1566\u20131571","journal-title":"Arch Ophthalmol"},{"key":"915_CR32","doi-asserted-by":"publisher","first-page":"e97808","DOI":"10.1371\/journal.pone.0097808","volume":"9","author":"W Rong","year":"2014","unstructured":"Rong W, Chen X, Zhao K, Liu Y, Liu X, Ha S, Liu W, Kang X, Sheng X, Zhao C (2014) Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PLoS ONE 9:e97808","journal-title":"PLoS ONE"},{"key":"915_CR33","doi-asserted-by":"publisher","first-page":"4063","DOI":"10.1167\/iovs.10-6869","volume":"52","author":"AF Roux","year":"2011","unstructured":"Roux AF, Faugere V, Vache C, Baux D, Besnard T, Leonard S, Blanchet C, Hamel C, Mondain M, Gilbert-Dussardier B, Edery P, Lacombe D, Bonneau D, Holder-Espinasse M, Ambrosetti U, Journel H, David A, Lina-Granade G, Malcolm S, Claustres M (2011) Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci 52:4063\u20134071","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"915_CR34","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1186\/1750-1172-8-122","volume":"8","author":"HB Steele-Stallard","year":"2013","unstructured":"Steele-Stallard HB, Le Quesne Stabej P, Lenassi E, Luxon LM, Claustres M, Roux AF, Webster AR, Bitner-Glindzicz M (2013) Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. Orphanet J Rare Dis 8:122","journal-title":"Orphanet J Rare Dis"},{"key":"915_CR35","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1086\/383096","volume":"74","author":"E Wijk van","year":"2004","unstructured":"van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H (2004) Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 74:738\u2013744","journal-title":"Am J Hum Genet"},{"key":"915_CR36","first-page":"1537","volume":"17","author":"W Xu","year":"2011","unstructured":"Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y (2011) Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. Mol Vis 17:1537\u20131552","journal-title":"Mol Vis"},{"key":"915_CR37","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1186\/1750-1172-8-85","volume":"8","author":"T Yang","year":"2013","unstructured":"Yang T, Wei X, Chai Y, Li L, Wu H (2013) Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis 8:85","journal-title":"Orphanet J Rare Dis"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-014-0915-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00438-014-0915-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-014-0915-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-014-0915-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T21:36:00Z","timestamp":1598304960000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00438-014-0915-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,25]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["915"],"URL":"https:\/\/doi.org\/10.1007\/s00438-014-0915-4","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,25]]},"assertion":[{"value":"6 June 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 September 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 September 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}