A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A. (15th January 2015)

• Record Type: Journal Article
• Authors: Meshcheryakova, Tatiana I.; Zinchenko, Rena A.; Vasilyeva, Tatiana A.; Marakhonov, Andrey V.; Zhylina, Svetlana S.; Petrova, Nika V.; Kozhanova, Tatiana V.; Belenikin, Maxim S.; Petrin, Alexander N.; Mutovin, Gennady R.
• Is Part Of: Annals of human genetics. Volume 79:Number 2(2015:Mar.)
• Page Start: 148
• Page End: 152
• Publication Date: 2015-01-15
• Subjects: Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12098
• Languages: English
• ISSNs: 0003-4800

Abstract

<abstract abstract-type="main"> <title>Summary</title> <p>Branchio‐oculo‐facial 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 <italic>TFAP2A</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 <italic>TFAP2A</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 <italic>de novo</italic>.</p> </abstract>