Cargando…

FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review

Marfan syndrome (MFS) is a life-threatening autosomal dominant genetic disorder of connective tissue caused by the pathogenic mutation of FBN1. Whole exome sequencing and Sanger sequencing were performed to identify the pathogenic mutation. The transcriptional consequence of the splice-altering muta...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, James Jiqi, Yu, Bo, Sun, Yang, Song, Xiuli, Wang, Dao Wen, Li, Zongzhe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602130/ https://www.ncbi.nlm.nih.gov/pubmed/36292727 http://dx.doi.org/10.3390/genes13101842

Ejemplares similares

Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome
por: MA, MINGJIA, et al.
Publicado: (2016)

A novel FBN1 mutation causes autosomal dominant Marfan syndrome
por: Xiao, Ying, et al.
Publicado: (2017)

Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome
por: Wang, Yueli, et al.
Publicado: (2018)

A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
por: Lin, Jiansheng, et al.
Publicado: (2023)

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome
por: Meng, Bo, et al.
Publicado: (2011)

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
por: McInerney‐Leo, Aideen M., et al.
Publicado: (2020)

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection
por: Xu, Shijun, et al.
Publicado: (2019)

Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families
por: Gong, Bo, et al.
Publicado: (2019)

C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family
por: Wang, Fengyun, et al.
Publicado: (2015)

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
por: Torrado, Mario, et al.
Publicado: (2018)

Multi-exon deletions of the FBN1 gene in Marfan syndrome
por: Liu, Wanguo, et al.
Publicado: (2001)

Marfan Syndrome Caused by a Novel FBN1 Mutation With Associated Pigmentary Glaucoma
por: Kuchtey, John, et al.
Publicado: (2013)

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
por: Daneshjoo, Omid, et al.
Publicado: (2020)

Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families
por: Li, Dandan, et al.
Publicado: (2022)

A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome
por: Wu, Yuduo, et al.
Publicado: (2021)

Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations
por: Aydin, Ali, et al.
Publicado: (2013)

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
por: Arnaud, Pauline, et al.
Publicado: (2021)

Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea
por: Heo, Ju Sun, et al.
Publicado: (2017)

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report
por: Yoon, Su Hyun, et al.
Publicado: (2021)

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome
por: Micheal, Shazia, et al.
Publicado: (2012)

Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos
por: Zeng, Yanting, et al.
Publicado: (2018)

Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome
por: Pu, Zhening, et al.
Publicado: (2018)

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family
por: Dong, Jiamei, et al.
Publicado: (2012)

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
por: Yalcintepe, Sinem, et al.
Publicado: (2020)

Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome
por: Pereira, Julia P., et al.
Publicado: (2022)

Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
por: Hu, Kui, et al.
Publicado: (2022)

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
por: Overwater, Eline, et al.
Publicado: (2018)

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
por: Colovati, Mileny ES, et al.
Publicado: (2012)

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome
por: Elgaz, Sümeyye, et al.
Publicado: (2022)

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
por: Tjeldhorn, Lena, et al.
Publicado: (2015)

Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions
por: Davis, Margaret R., et al.
Publicado: (2016)

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression
por: Benarroch, Louise, et al.
Publicado: (2018)

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
por: Schnause, Anna Clara, et al.
Publicado: (2021)

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
por: Taniguchi, Yuki, et al.
Publicado: (2023)

The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations
por: den Hartog, A. W., et al.
Publicado: (2016)

Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease
por: Li, Zongzhe, et al.
Publicado: (2021)

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
por: Reyes-Hernández, Octavio D., et al.
Publicado: (2016)

A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
por: Suliman, Asem, et al.
Publicado: (2022)

Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm
por: Mohammad, Ahmed, et al.
Publicado: (2018)

Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome
por: Benarroch, Louise, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_vrmfms1255lrk17lvs8lepf55v