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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
American Journal of Medical Genetics, Part A, Volume 155, No. 1, Year 2011
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Description
Branchio-oculo-facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. Major features include cutaneous and ocular abnormalities, characteristic facies, renal, ectodermal, and temporal bone anomalies. Having determined that mutations involving TFAP2A result in BOFS, we studied a total of 30 families (41 affected individuals); 26/30 (87%) fulfilled our cardinal diagnostic criteria. The original family with the 3.2 Mb deletion including the TFAP2A gene remains the only BOFS family without the typical CL/P and the only family with a deletion. We have identified a hotspot region in the highly conserved exons 4 and 5 of TFAP2A that harbors missense mutations in 27/30 (90%) families. Several of these mutations are recurrent. Mosaicism was detected in one family. To date, genetic heterogeneity has not been observed. Although the cardinal criteria for BOFS have been based on the presence of each of the core defects, an affected family member or thymic remnant, we documented TFAP2A mutations in three (10%) probands in our series without a classic cervical cutaneous defect or ectopic thymus. Temporal bone anomalies were identified in 3/5 patients investigated. The occurrence of CL/P, premature graying, coloboma, heterochromia irides, and ectopic thymus, are evidence for BOFS as a neurocristopathy. Intrafamilial clinical variability can be marked. Although there does not appear to be mutation-specific genotype-phenotype correlations at this time, more patients need to be studied. Clinical testing for TFAP2A mutations is now available and will assist geneticists in confirming the typical cases or excluding the diagnosis in atypical cases. © 2010 Wiley-Liss, Inc.
Authors & Co-Authors
Milunsky, Jeff M.
Unknown Affiliation
Maher, Tom M.
Unknown Affiliation
Zhao, Geping
Unknown Affiliation
Wang, Zhenyuan
Unknown Affiliation
Mulliken, John B.
Unknown Affiliation
Chitayat, David A.
Unknown Affiliation
Clemens, Michele
Unknown Affiliation
Stalker, Heather J.
Unknown Affiliation
Bauer, Mislen
Unknown Affiliation
Burch, Michele
Unknown Affiliation
Chénier, Sébastien
Unknown Affiliation
Cunningham, Michael L.
Unknown Affiliation
Drack, Arlene V.
Unknown Affiliation
Janssens, Sandra
Unknown Affiliation
Karlea, Audrey
Unknown Affiliation
Klatt, R.
Unknown Affiliation
Kini, Usha
Unknown Affiliation
Klein, Ophir David
Unknown Affiliation
Lachmeijer, Augusta
Unknown Affiliation
Megarbane, Andre
Unknown Affiliation
Mendelsohn, Nancy J.
Unknown Affiliation
Meschino, Wendy S.
Unknown Affiliation
Mortier, Geert R.
Unknown Affiliation
Parkash, Sandhya
Unknown Affiliation
Ray, C. Renai
Unknown Affiliation
Roberts, Angharad M.
Unknown Affiliation
Roberts, Amy
Unknown Affiliation
Reardon, William
Unknown Affiliation
Schnur, Rhonda E.
Unknown Affiliation
Smith, Rosemarie
Unknown Affiliation
Splitt, Miranda Penman
Unknown Affiliation
Tezcan, Kamer
Unknown Affiliation
Whiteford, Margo
Unknown Affiliation
Wong, Derek A.
Unknown Affiliation
Zori, Roberto
Unknown Affiliation
Lin, Angela E.
Unknown Affiliation
Statistics
Citations: 67
Authors: 36
Affiliations: 27
Identifiers
Doi:
10.1002/ajmg.a.33783
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health