Cargando…

A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations

BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting the cardiovascular, skeletal, and ophthalmic systems. This report aimed to describe a novel genetic background and treatment prognosis of MFS. CASE PRESENTATION: A proband was initially diagnosed with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lin, Jiansheng, Lin, Yanyu, Wang, Gaoxiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10225074/ https://www.ncbi.nlm.nih.gov/pubmed/37245000 http://dx.doi.org/10.1186/s12920-023-01551-6

Ejemplares similares

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

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

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

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

FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
por: Wang, James Jiqi, et al.
Publicado: (2022)

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

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

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

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)

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report
por: Niu, Yuping, et al.
Publicado: (2020)

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

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

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

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

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)

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

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

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

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

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

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

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

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

Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report
por: Chen, Heye, et al.
Publicado: (2020)

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)

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)

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

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

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

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

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

Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report
por: Ugarte-Camara, Marina, et al.
Publicado: (2019)

Geleophysic dysplasia caused by a mutation in FBN1: A case report
por: Tao, Ying, et al.
Publicado: (2021)

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)

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

Cannot write session to /tmp/vufind_sessions/sess_7d0tu989u7no8et6s3b0r3rb76