{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:41:12Z","timestamp":1777329672200,"version":"3.51.4"},"reference-count":6,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and caf\u00e9-au-lait spots. Mutation in the\n                    <jats:italic>NF 1<\/jats:italic>\n                    gene causes NF1. The\n                    <jats:italic>NF 1<\/jats:italic>\n                    gene encodes neurofibromin. In this study, we found a 31-year-old Chinese boy with NF1. He presented only with caf\u00e9-au-lait spots over the whole body. The proband\u2019s mother had a severe phenotype with neurofibroma and caf\u00e9-au-lait macules over her whole body, mostly in the facial region. A novel multi exon deletion c.(4661+1_4662-1)_(5748+1_5749-1)del; [EX36_39DEL] on the\n                    <jats:italic>NF 1<\/jats:italic>\n                    gene has been identified in the proband. Quantitative real-time polymerase chain reaction (qPCR) confirmed that this mutation is co-segregated well and was inherited from the proband\u2019s mother. The mutation was absent in the proband\u2019s father and normal individuals. The novel multi exon deletion results in the formation of a truncated NF1 protein that caused the NF1 phenotype in this family. Our present study also emphasized the significance of rapid, accurate and cost-effective screening for the patient with NF1 by next generation sequencing (NGS).\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2018-0019","type":"journal-article","created":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T13:30:58Z","timestamp":1554125458000},"page":"45-48","source":"Crossref","is-referenced-by-count":0,"title":["Next generation sequencing identified a novel multi exon deletion of the\n                    <i>NF1<\/i>\n                    gene in a Chinese pedigree with neurofibromatosis type 1"],"prefix":"10.2478","volume":"21","author":[{"given":"J","family":"Yang","sequence":"first","affiliation":[{"name":"Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People\u2019s Republic of China Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J-X","family":"An","sequence":"additional","affiliation":[{"name":"Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People\u2019s Republic of China Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X-L","family":"Liu","sequence":"additional","affiliation":[{"name":"Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People\u2019s Republic of China Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z-Q","family":"Wang","sequence":"additional","affiliation":[{"name":"Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People\u2019s Republic of China Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G-M","family":"Xie","sequence":"additional","affiliation":[{"name":"Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People\u2019s Republic of China Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X-L","family":"Yang","sequence":"additional","affiliation":[{"name":"The third people\u2019s hospital of Liangzhou District, Wuwei City, Gansu Province, People\u2019s Republic of China , Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S-J","family":"Xu","sequence":"additional","affiliation":[{"name":"Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People\u2019s Republic of China Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Feng","sequence":"additional","affiliation":[{"name":"Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People\u2019s Republic of China Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Ni","sequence":"additional","affiliation":[{"name":"Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People\u2019s Republic of China Wuwei City , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,12,31]]},"reference":[{"key":"2026042718392723855_j_bjmg-2018-0019_ref_001_w2aab2b8c39b1b7b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Banerjee S, Dai Y, Liang S, Chen H, Wang Y, Tang L, et al. A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family. J Clin Neurosci. 2016; 31(9): 182-184.","DOI":"10.1016\/j.jocn.2015.12.034"},{"key":"2026042718392723855_j_bjmg-2018-0019_ref_002_w2aab2b8c39b1b7b1ab2b2b2Aa","unstructured":"Stumpf DA, Alksne JF, Annegers JF. Neurofibromatosis. Conference statement. Presented at the National Institutes of Health Consensus Development Conference, held at the National Institutes of Health in Bethesda, MD, USA on July 13-15 1987. Arch Neurol 1998;45(5): 575-578."},{"key":"2026042718392723855_j_bjmg-2018-0019_ref_003_w2aab2b8c39b1b7b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Yang L, Banerjee S, Cao J, Bai X, Peng Z, Chen H, et al. Compound heterozygous variants in the coiled-coil domain containing 40 gene in a Chinese family with primary ciliary dyskinesia cause extreme phenotypic diversity in cilia ultrastructure. Front Genet. 2018; 9(2): 23. doi: 10.3389\/fgene.2018.00023. eCollection 2018.","DOI":"10.3389\/fgene.2018.00023"},{"key":"2026042718392723855_j_bjmg-2018-0019_ref_004_w2aab2b8c39b1b7b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Pasmant E, Parfait B, Luscan A, Goussard P, Briand-Suleau A, Laaaaurendeau I, et al. Neurofibromatosis type 1 molecular diagnosis: What can NGS do for you when you have a large gene with loss of function mutations? Eur J Hum Genet 2015; 23(5): 596-601.","DOI":"10.1038\/ejhg.2014.145"},{"key":"2026042718392723855_j_bjmg-2018-0019_ref_005_w2aab2b8c39b1b7b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009; 61(1): 1-14.","DOI":"10.1016\/j.jaad.2008.12.051"},{"key":"2026042718392723855_j_bjmg-2018-0019_ref_006_w2aab2b8c39b1b7b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Banerjee S, Lei D, Liang S, Yang L, Liu S, Wei Z, et al. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia. Oncotarget. 2017; 8(24): 39695-39702.","DOI":"10.18632\/oncotarget.13932"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/content.sciendo.com\/view\/journals\/bjmg\/21\/2\/article-p45.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2018-0019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:03:38Z","timestamp":1777327418000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2018-0019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,1]]},"references-count":6,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,12,31]]},"published-print":{"date-parts":[[2018,12,31]]}},"alternative-id":["10.2478\/bjmg-2018-0019"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2018-0019","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,1]]}}}