Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

Sato, Taisuke; Samura, Osamu; Kato, Noriko; Taniguchi, Kosuke; Takahashi, Ken; Ito, Yuki; Aoki, Hiroaki; Kobayashi, Masahisa; Migita, Ohsuke; Okamoto, Aikou; Hata, Kenichiro

doi:10.1038/s41439-018-0004-z

Cited by 17 publications

(20 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Like most dominant diseases, BOFS expresses a considerable phenotypic variabilities. The patients displayed variable severity of clinical symptoms, even with the same mutation in the inter-intrafamily due to incomplete penetrance ( 5 , 15 – 17 ) and somatic mosaicism ( 10 ). Titheradge et al ( 18 ) reported a three generational BOFS family with c.703G >A, p.(Glu235Lys), demonstrating wide phenotypic spectrum, including lethality.…”

Section: Discussionmentioning

confidence: 99%

A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report

Min

Mao

Wang³

et al. 2020

Front. Pediatr.

View full text Add to dashboard Cite

Background: Branchio-oculo-facial syndrome (BOFS) is a rare congenital developmental disorder with highly variable clinical phenotypes in autosomal dominant inheritance. The aim of this study is to identify disease-causing mutations in a Chinese family with predominant coloboma of choroid. Case report: We described a family (a mother and her daughter) with unclear clinical diagnosis. The mother (proband) presented with bilateral coloboma of choroid, whereas her daughter had a relatively severe phenotype and presented with larger bilateral choroid coloboma and high-vaulted arch. We applied the next generation sequencing (NGS) panel and analyzed 776 genes related to inherited ocular disorders on the proband. Four candidate heterozygous variants in four genes, respectively, were detected in the proband. Validation of these variants were subsequently performed in the family using Sanger sequencing. Among these variants, a novel nonsense mutation c.912C>A, p.(Cys304 * ) (NM_001042425.2) which in exon 6 of the conserved helix-span-helix domain in TFAP2A results in a premature termination codon. It may trigger nonsense-mediated mRNA decay (NMD). Both the affected mother and daughter had this variant, whereas it was absent in the asymptomatic father. Together with the silicon tools and clinical features, we concluded that the variant c.912C>A, p.(Cys304 * ), was the second reported nonsense mutation in TFAP2A gene, which was the disease-causing mutation of the family. Conclusion: There are many hereditary diseases accompanied by ocular anomalies. For instance, BOFS, patients with atypical features are always at risk of being under-diagnosed. NGS is a powerful method to identify the genetic cause and improve genetic counseling for less clarified hereditary ocular diseases.

show abstract

Section: Discussionmentioning

confidence: 99%

A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report

Min

Mao

Wang³

et al. 2020

Front. Pediatr.

View full text Add to dashboard Cite

show abstract

“…DNA was extracted from the peripheral blood samples of II‐1 and II‐2 in Pedigree 1 (Figure a), and I‐1 and I‐2 in Pedigree 2 (Figure b) using the QIAamp DNA Blood Midi Kit (Qiagen, Venlo, Netherlands) following the manufacturer's instructions, and from umbilical cord samples from III‐1 and III‐2 in Pedigree 1 and chorionic villi samples from II‐2 in Pedigree 2 using conventional phenol/chloroform/isoamyl alcohol extraction (Sato et al, ).…”

Section: Methodsmentioning

confidence: 99%

“…We performed whole‐exome sequencing, alignment, annotation, and data filtering on II‐1, II‐2, and III‐2 in Pedigree 1 as previously described (Sato et al, ).…”

Section: Methodsmentioning

confidence: 99%

“…To confirm the presence of mutations in family members in both pedigrees, we performed dye‐terminator direct sequencing as previously described (Sato et al, ).…”

Section: Methodsmentioning

confidence: 99%

“…A): green, cytosine (C): aqua, guanine (G): black, thymine (T): red [Color figure can be viewed at wileyonlinelibrary.com]Following genetic counseling, the couple agreed to undergo targeted sequencing of genes associated with ACG1B.2.1.4 | Sample purification and DNA extractionDNA was extracted from the peripheral blood samples of II-1 and II-2 in Pedigree 1(Figure 1a), and I-1 and I-2 in Pedigree 2(Figure 1b)using the QIAamp DNA Blood Midi Kit(Qiagen, Venlo, Netherlands) following the manufacturer's instructions, and from umbilical cord samples from III-1 and III-2 in Pedigree 1 and chorionic villi samples from II-2 in Pedigree 2 using conventional phenol/chloroform/isoamyl alcohol extraction(Sato et al, 2018).…”

mentioning

confidence: 99%

See 2 more Smart Citations

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2

Sato

Kojima

Samura

et al. 2019

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation in solute carrier family 26 member 2 (SLC26A2), a gene associated with ACG1B (NM_000112:c.1987G>A). This loss‐of‐function point mutation causes substitution of glycine 663 with arginine in a highly conserved loop domain of SLC26A2. Interestingly, only a few cases of this mutation have been registered in Japanese genomic databases, and there are no reports of this mutation in any major genomic databases outside Japan. Furthermore, we confirmed the presence of a homozygous stretch of approximately 75 kb surrounding the pathogenic variant. Our findings suggest that this missense point mutation in SLC26A2, which is likely the cause of the ACG1B phenotypes in these unrelated fetuses, is distributed exclusively in Japan.

show abstract

A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population

Chen

et al. 2019

Childs Nerv Syst

View full text Add to dashboard Cite

Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

Cited by 17 publications

References 12 publications

A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report

A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2

A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population

Contact Info

Product

Resources

About