Additional clinical and molecular analyses of <i>TFAP2A</i> in patients with the Branchio‐Oculo‐Facial syndrome: Previously reported patient

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

doi:10.1002/ajmg.a.33512

Cited by 13 publications

(14 citation statements)

References 3 publications

(1 reference statement)

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“…Only three of seven patients had skin defects on the lateral surface of the neck. Thus, our data are consistent with other studies, which have reported that the presence of gill arch anomaly varies from 50% to 75% (Gestri et al., ; Stoetzel et al., ; Tekin et al., ; Reiber et al., ; Milunsky et al., ).…”

Section: Resultssupporting

confidence: 93%

A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A

Meshcheryakova

Зинченко

Vasilyeva

et al. 2015

Annals of Human Genetics

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SummaryBranchio-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 TFAP2A 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 TFAP2A 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 de novo.

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Section: Resultssupporting

confidence: 93%

A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A

Meshcheryakova

Зинченко

Vasilyeva

et al. 2015

Annals of Human Genetics

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“…Psychomotor development is usually normal, despite frequent visual and hearing handicaps, but, there are two patients reported with autism spectrum disorder and a patient with severe mental retardation [Reiber et al, 2010a, Patient SP2; Gestri et al, 2009; Reiber et al, 2010b].…”

Section: Resultsmentioning

confidence: 99%

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

Milunsky¹,

Maher²,

Zhao³

et al. 2010

American J of Med Genetics Pt A

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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.

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“…Ante la evidencia diagnóstica del síndrome BOF, se realizó análisis por secuenciación, que reveló la mutación c.763A>G (p.Arg255Gly) en el gen TFAP2A. 9 Más del 95% de los pacientes en quienes se realiza el diagnóstico del síndrome BOF tienen una variante en la secuencia del gen TFAP2A. 10,11 Además de lo mencionado con antelación, en este caso, se destacó la presencia de úvula bífida y lengua con una hendidura central parcial, manifestaciones clínicas que no han sido reportadas; sin embargo, por su origen embrionario en la región del piso faríngeo, son compatibles como hallazgos clínicos de este padecimiento.…”

Section: Comentariounclassified

Nuevas manifestaciones orales del síndrome branquio-óculo-facial. Caso clínico

et al. 2015

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Presentación de casos clínicos RESUMENEl síndrome branquio-óculo-facial es una condición autosómica dominante con expresividad variable y que afecta particularmente las estructuras de la cara y cuello por un desarrollo inadecuado del primero y segundo arco branquial; presenta malformaciones de los ojos y oídos, con características faciales distintivas. Está asociado con alteraciones en el gen TFAP2A. Se presenta una paciente de 9 años con fenotipo de síndrome branquio-óculo-facial y la presencia de dos nuevas manifestaciones orales, la úvula bífida y la lengua con hendidura central parcial, no descritas hasta ahora en esta condición clínica. Palabras clave: branquio-óculo-facial, arco branquial, úvula bífida, anomalías. ABSTRACTThe branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It is associated with alterations in TFAP2A gene. We present a patient with 9 years of age with phenotype of the branchio-oculo-facial syndrome and the presence of 2 new oral manifestations, the bifid uvula and the tongue with partial central cleft, not yet described in this clinical condition.

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Additional clinical and molecular analyses of TFAP2A in patients with the Branchio‐Oculo‐Facial syndrome: Previously reported patient

Cited by 13 publications

References 3 publications

A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A

A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A

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

Nuevas manifestaciones orales del síndrome branquio-óculo-facial. Caso clínico

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