{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:41:38Z","timestamp":1777329698499,"version":"3.51.4"},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"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":[[2021,7,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Here we report the first familial case spread through at least three generations, genetically verified cases of Marshall-Stickler syndrome in Bulgaria. The proband, a 2-year-old girl, has craniofacial dysplasia, ocular hypertelorism, small saddle nose with a flat bridge and midface hypoplasia. The pedigree of the proband\u2019s family showed that her father has the same clinical manifestations of the disease. In addition, her father presented with a tall, thin stature and mild hearing loss, manifested with aging. The same dysmorphological symptoms were presented by the paternal grandfather. Both patients, the 2-year-old girl and her father, have been diagnosed to carry Marshall-Stickler syndrome. The\n                    <jats:italic>COL2A1<\/jats:italic>\n                    gene tested negative in the family. Based on the higher percentage of mutations in the\n                    <jats:italic>COL2A1<\/jats:italic>\n                    gene, we analyzed this gene as the first target in the family. The\n                    <jats:italic>COL2A1<\/jats:italic>\n                    gene tested negative, and we sequenced the gene further. A novel splice site mutation c.3474+1G&gt;A was found in intron 44. This variant is related to the clinical presentation in the patient and her father. The c.3474+1G&gt;A mutation results in altered splicing affects at the donor splice site of intron 44, which most probably gives a nonfunctional protein. The variant affects the major triple-helical domain that represents a mutation hot-spot for the gene.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2021-0001","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T22:11:20Z","timestamp":1627423880000},"page":"95-98","source":"Crossref","is-referenced-by-count":4,"title":["Novel mutation in the\n                    <i>COL11A1<\/i>\n                    gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family"],"prefix":"10.2478","volume":"24","author":[{"given":"M","family":"Mladenova","sequence":"first","affiliation":[{"name":"Department of Medical Chemistry and Biochemistry, Medical University Sofia , Sofia , Bulgaria"},{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica,\u201d Sofia , Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Todorov","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica,\u201d Sofia , Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Grozdanova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital \u201cSt. George,\u201d Plovdiv , Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Mitev","sequence":"additional","affiliation":[{"name":"Department of Medical Chemistry and Biochemistry, Medical University Sofia , Sofia , Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Todorova","sequence":"additional","affiliation":[{"name":"Department of Medical Chemistry and Biochemistry, Medical University Sofia , Sofia , Bulgaria"},{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica,\u201d Sofia , Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,7,27]]},"reference":[{"key":"2026042718394270049_j_bjmg-2021-0001_ref_001","unstructured":"Vallat M, Fritsch D, van Coppenolle F, Detre J, Moze M, Rasbourdin FI. Le syndrome de Stickler ou arthroophtalmopathie progressive h\u00e9r\u00e9ditaire (Stickler\u2019s syndrome or hereditary progressive arthro-opthalmopathy) [French]. J Fr Ophtalmol. 1985; 8(4): 301307. PMID: 4020040."},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_002","doi-asserted-by":"crossref","unstructured":"Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc. 1965; 40: 433-455.","DOI":"10.1016\/S0025-6196(25)14186-4"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_003","unstructured":"Herrmann J, France TD, Spranger JW, Opitz JM, Wiffler C. The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig Arctic Ser. 1975; 11(2): 76-103."},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_004","doi-asserted-by":"crossref","unstructured":"Marshall D. Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect. Am J Ophthalmol. 1958; 45(4 Pt 2): 143-156.","DOI":"10.1016\/0002-9394(58)90236-8"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_005","doi-asserted-by":"crossref","unstructured":"Shanske AL, Bogdanow A, Shprintzen RJ, Marion RW. The Marshall syndrome: Report of a new family and review of literature. Am J Med Genet. 1997; 70(1): 52-57.","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<52::AID-AJMG11>3.0.CO;2-W"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_006","doi-asserted-by":"crossref","unstructured":"Winter RM, Baraitser M, Laurence KM, Donna D, Hall CM. The Weissenbacher-Zweym\u00fcller, Stickler, and Marshall Syndromes: Further evidence of their identity. Am J Med Genet. 1983; 16(2): 189-199.","DOI":"10.1002\/ajmg.1320160209"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_007","doi-asserted-by":"crossref","unstructured":"Cohen MM Jr. Letter: The demise of the Marshall syndrome. J Pediatr. 1974; 85(6): 878.","DOI":"10.1016\/S0022-3476(74)80373-2"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_008","doi-asserted-by":"crossref","unstructured":"Stratton RF, Lee B, Ramirez F. Marshall syndrome. Am J Med Genet. 1991; 41(1): 35-38.","DOI":"10.1002\/ajmg.1320410111"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_009","doi-asserted-by":"crossref","unstructured":"Aym\u00e9 S, Preus M. The Marshall and Stickler syndromes: Objective rejection of lumping. J Med Genet. 1984; 21(1): 34-81.","DOI":"10.1136\/jmg.21.1.34"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_010","doi-asserted-by":"crossref","unstructured":"Vintiner GM, Temple IK, Middleton-Price HR, Baraitser M, Malcolm S. Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet. 1991; 41(1): 44-48.","DOI":"10.1002\/ajmg.1320410113"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_011","doi-asserted-by":"crossref","unstructured":"Akawi NA, Al Gazali L, Ali BR. Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet. 2011; 82(2): 147-156.","DOI":"10.1111\/j.1399-0004.2011.01734.x"},{"key":"2026042718394270049_j_bjmg-2021-0001_ref_012","doi-asserted-by":"crossref","unstructured":"Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, et al. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A. 2007; 143A(3): 258-264.","DOI":"10.1002\/ajmg.a.31586"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2021-0001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:04:18Z","timestamp":1777327458000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2021-0001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,1]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,7,27]]},"published-print":{"date-parts":[[2021,7,27]]}},"alternative-id":["10.2478\/bjmg-2021-0001"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2021-0001","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,1]]}}}