Additional clinical and molecular analyses of <i>TFAP2A</i> in patients with the branchio‐oculo‐facial syndrome

Reiber, Judith; Sznajer, Yves; Posteguillo, Elena Guillén; Müller, Dietmar; Lyonnet, Stanislas; Baumann, Clarisse; Just, Walter

doi:10.1002/ajmg.a.33331

Cited by 21 publications

(13 citation statements)

References 22 publications

(37 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We originally described five families with BOFS that had heterozygous mutations or a deletion of the TFAP2A gene [Milunsky et al, 2008]. Four research groups have confirmed our original findings [Gestri et al, 2009; Stoetzel et al, 2009; Tekin et al, 2009; Reiber et al, 2010a]. This article extends ongoing clinical and molecular research to include 30 BOFS families (41 affected individuals), the largest series involving this syndrome.…”

Section: Introductionmentioning

confidence: 54%

“… 1 Milunsky et al [2008]; 2 Mégarbané et al [1998]; 3 Lin et al [1995]; 4 Lin et al [2009]; 5 Gestri et al [2009]; 6 Stoetzel et al [2009]; 7 Tekin et al [2009]; 8 Reiber et al [2010]; 9 the senior authors (J.M. ; A.L.)…”

Section: Resultsmentioning

confidence: 99%

“…The diagnostic criteria used for BOFS are summarized in Table I. We also reviewed previously described patients [Gestri et al, 2009; Stoetzel et al, 2009; Tekin et al, 2009; Reiber et al, 2010a].…”

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Milunsky¹,

Maher²,

Zhao³

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionmentioning

confidence: 54%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Milunsky¹,

Maher²,

Zhao³

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…b Schematic representation of the human TFAP2A gene and mutations. Previously reported mutations (Reiber et al 2010; Gestri et al 2009; Tekin et al 2009) are shown with black arrows ; the position of the c.1025+2T>A mutation is shown with a red arrow …”

Section: Figmentioning

confidence: 99%

Whole exome sequence analysis of Peters anomaly

et al. 2014

View full text Add to dashboard Cite

Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently known ocular genes. Among the eight previously recognized Peters anomaly genes, we identified a de novo missense mutation in PAX6, c.155G>A, p.(Cys52Tyr), in one patient. Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel. This is the frst study to use whole exome sequencing to discern the genetic etiology of a large cohort of patients with syndromic or isolated Peters anomaly. We report five new genes associated with this condition and suggest screening of TFAP2A and FLNA in patients with Peters anomaly and relevant syndromic features and HCCS, NDP and SLC4A11 in patients with isolated Peters anomaly.

show abstract

“…Interestingly, BCOR is a regulator of the transcription factor AP-2 (Fan et al, 2009). Mutations or deletions in the AP-2_ gene TFAP2A cause branchiooculofacial syndrome (BOFS) (MIM# 113620) (Milunsky et al, 2008; Reiber et al, 2010), which includes orofacial clefting, ocular anomalies and other facial dysmorphisms. It is possible that the presence of the different forms of oral clefts in OFCD is regulated by functional polymorphisms in TFAP2A or in AP2-regulated genes such as IRF6 (Rahimov et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Oculofaciocardiodental Syndrome: A Rare Case and Review of the Literature

Davoody

Chen

Nanda

et al. 2012

The Cleft Palate Craniofacial Journal

View full text Add to dashboard Cite

Oculofaciocardiodental syndrome (OFCD) is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The clinical diagnosis of OFCD can be challenging due to a wide variety of symptoms. OFCD is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features and a comprehensive overview of OFCD. Diagnosis of OFCD in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.

show abstract

Additional clinical and molecular analyses of TFAP2A in patients with the branchio‐oculo‐facial syndrome

Cited by 21 publications

References 22 publications

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Whole exome sequence analysis of Peters anomaly

Oculofaciocardiodental Syndrome: A Rare Case and Review of the Literature

Contact Info

Product

Resources

About