A Novel<i>De Novo EFNB1</i>Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

Ramirez-Garcia, M. A.; Chacón‐Camacho, Oscar F.; Leyva-Hernandez, C.; Cárdenas‐Conejo, Alan; Zenteno, Juan Carlos

doi:10.1155/2013/349725

Cited by 2 publications

(1 citation statement)

References 11 publications

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“…In 2004, the ephrin-B1 gene (EFNB1), located in the Xq13.1 region, was identified as being responsible for CFNS (Twigg et al 2004;Wieland et al 2004). Subsequently, many EFNB1 mutations have been identified in patients with CFNS Shotelersuk et al 2006;Torii et al 2007;Wallis et al 2008;Hogue et al 2010;Apostolopoulou et al 2012;Ramirez-Garcia et al 2013;Seven et al 2013;Chacon-Camacho et al 2014;van den Elzen et al 2014;Goyal et al 2015;Ozylmaz et al 2015).…”

Section: Introductionmentioning

confidence: 99%

Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

Yamamoto

Igarashi

Shimojima

et al. 2016

Congenital Anomalies

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Craniofrontonasal syndrome (CFNS; MIM#304110) is characterized by asymmetric facial features with hypertelorism and a broad bifid nose due to synostosis of the coronal suture. CFNS shows a unique X-linked inheritance pattern (most affected patients are female and obligate male carriers exhibit a mild manifestation or no typical features at all) associated with the ephrin-B1 gene (EFNB1) located in the Xq13.1 region. In this study, we performed targeted, massively parallel sequencing using a next-generation sequencer, and identified a novel EFNB1 mutation, c.270_271delCA, in a Japanese female patient with craniosynostosis. Because subsequent Sanger sequencing identified no mutation in either parent, this mutation was determined to be de novo in origin. After obtaining molecular diagnosis, a retrospective clinical evaluation confirmed the clinical diagnosis of CFNS in this patient. Comprehensive molecular diagnosis using a next-generation sequencer would be beneficial for early diagnosis of the patients with undiagnosed craniosynostosis.

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Section: Introductionmentioning

confidence: 99%

Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

Yamamoto

Igarashi

Shimojima

et al. 2016

Congenital Anomalies

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Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

Tavares

Kague²,

Musso

et al. 2018

Mol Syndromol

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Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by EFNB1 mutations in which females are more severely affected than males. Severe male phenotypes are associated with mosaicism, supporting cellular interference for sex bias in this disease. Although many variants have been found in the coding region of EFNB1, only 2 pathogenic variants have been identified in the same nucleotide in 5′UTR, disrupting the stop codon of an upstream open reading frame (uORF). uORFs are known to be part of a wide range of post-transcriptional regulation processes, and just recently, their association with human diseases has come to light. In the present study, we analyzed EFNB1 in a female patient with typical features of CFNS. We identified a variant, located at c.-411, creating a new upstream ATG (uATG) in the 5′UTR of EFNB1, which is predicted to alter an existing uORF. Dual-luciferase reporter assays showed significant reduction in protein translation, but no difference in the mRNA levels. Our study demonstrates, for the first time, the regulatory impact of uATG formation on EFNB1 levels and suggests that this should be the target region in molecular diagnosis of CFNS cases without pathogenic variants in the coding and splice sites regions of EFNB1.

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A NovelDe Novo EFNB1Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

Cited by 2 publications

References 11 publications

Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

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