{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T02:30:46Z","timestamp":1746325846439},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,1,15]],"date-time":"2015-01-15T00:00:00Z","timestamp":1421280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Branchio\u2010oculo\u2010facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associated with mutations in the <jats:italic>TFAP2A<\/jats:italic> gene. Here, we performed clinical analysis and mutation diagnostics in seven BOFS patients in Russia. The phenotypic presentation of BOFS observed in three patients showed high heterogeneity, including variation in its main clinical manifestations (linear loci of cervical cutaneous aplasia, ocular anomalies and orofacial cleft). In certain other cases, isolated ocular anomalies, or an orofacial cleft with accessory BOFS symptoms, were observed. In five BOFS patients, conductive hearing loss was diagnosed. Direct sequencing of the coding region of the <jats:italic>TFAP2A<\/jats:italic> gene revealed missense mutations in four BOFS patients. One patient was observed to have a previously described mutation (p.Arg251Gly), while three patients from two families were found to have novel mutations: p.Arg213Ser and p.Val210Asp. These novel mutations were not present in healthy members of the same family and therefore should be classified as <jats:italic>de novo<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/ahg.12098","type":"journal-article","created":{"date-parts":[[2015,1,15]],"date-time":"2015-01-15T18:38:30Z","timestamp":1421347110000},"page":"148-152","source":"Crossref","is-referenced-by-count":9,"title":["A Clinical and Molecular Analysis of Branchio\u2010Oculo\u2010Facial Syndrome Patients in Russia Revealed New Mutations in <i>TFAP2A<\/i>"],"prefix":"10.1111","volume":"79","author":[{"given":"Tatiana I.","family":"Meshcheryakova","sequence":"first","affiliation":[{"name":"Scientific and Practical Centre of Medical Care for Children  Aviatorov Str., 38 Moscow 119620 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rena A.","family":"Zinchenko","sequence":"additional","affiliation":[{"name":"Scientific and Practical Centre of Medical Care for Children  Aviatorov Str., 38 Moscow 119620 Russian Federation"},{"name":"Pirogov Russian National Research Medical University  Ostrovitianova Str., 1 Moscow 117997 Russian Federation"},{"name":"Research Centre for Medical Genetics Russian Academy of Medical Sciences  Moskvorechie Str., 1 Moscow 115478 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana A.","family":"Vasilyeva","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics Russian Academy of Medical Sciences  Moskvorechie Str., 1 Moscow 115478 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrey V.","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics Russian Academy of Medical Sciences  Moskvorechie Str., 1 Moscow 115478 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana S.","family":"Zhylina","sequence":"additional","affiliation":[{"name":"Scientific and Practical Centre of Medical Care for Children  Aviatorov Str., 38 Moscow 119620 Russian Federation"},{"name":"Pirogov Russian National Research Medical University  Ostrovitianova Str., 1 Moscow 117997 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nika V.","family":"Petrova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics Russian Academy of Medical Sciences  Moskvorechie Str., 1 Moscow 115478 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana V.","family":"Kozhanova","sequence":"additional","affiliation":[{"name":"Scientific and Practical Centre of Medical Care for Children  Aviatorov Str., 38 Moscow 119620 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxim S.","family":"Belenikin","sequence":"additional","affiliation":[{"name":"Scientific and Practical Centre of Medical Care for Children  Aviatorov Str., 38 Moscow 119620 Russian Federation"},{"name":"Pirogov Russian National Research Medical University  Ostrovitianova Str., 1 Moscow 117997 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander N.","family":"Petrin","sequence":"additional","affiliation":[{"name":"Scientific and Practical Centre of Medical Care for Children  Aviatorov Str., 38 Moscow 119620 Russian Federation"},{"name":"Pirogov Russian National Research Medical University  Ostrovitianova Str., 1 Moscow 117997 Russian Federation"},{"name":"Moscow State University of Medicine and Dentistry  Delegatskaya Str., 20 bld. 1 Moscow 127473 Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gennady R.","family":"Mutovin","sequence":"additional","affiliation":[{"name":"Scientific and Practical Centre of Medical Care for Children  Aviatorov Str., 38 Moscow 119620 Russian Federation"},{"name":"Pirogov Russian National Research Medical University  Ostrovitianova Str., 1 Moscow 117997 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