De novo heterozygous FBN1 mutations in the extreme C‐terminal region cause progeroid fibrillinopathy
@article{Garg2014DeNH, title={De novo heterozygous FBN1 mutations in the extreme C‐terminal region cause progeroid fibrillinopathy}, author={Abhimanyu Garg and Chao Xing}, journal={American Journal of Medical Genetics Part A}, year={2014}, volume={164}, pages={1341 - 1345} }
De Novo Heterozygous FBN1 Mutations in the Extreme C-Terminal Region Cause Progeroid Fibrillinopathy Abhimanyu Garg,* and Chao Xing Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas Department of Clinical Sciences and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas
16 Citations
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
- Medicine, BiologyGene
- 2016
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1
- BiologyMolecular genetics & genomic medicine
- 2019
Allelic truncating mutations of FBN1 could cause either classical Marfan syndrome or a more complicated phenotype associated with Marfanoid–progeroid–lipodystrophy syndrome (MPLS).
Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy
- MedicineEuropean Journal of Human Genetics
- 2016
It is suggested that this previously unknown genotype/phenotype relationship constitutes a new fibrillinopathy for which the name marfanoid–progeroid–lipodystrophy syndrome would be appropriate.
Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit
- Biology, MedicineDisease Models & Mechanisms
- 2018
A novel genetically engineered rabbit model ofMPL syndrome, generated by CRISPR/Cas9-mediated mutation of FBN1, mimics the histopathological changes and functional defects of MPL syndrome seen in the clinic.
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1
- BiologybioRxiv
- 2019
Overall, this study provides direct evidence that a dominant negative interaction of FBN1 potentially explains the distinct clinical phenotype in MPLS patients through genetic and functional analysis of the first Chinese patient with MPLS.
Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A
- MedicineAmerican journal of medical genetics. Part A
- 2021
An 18 months old male child with biallelic c.2005C>T p.(Arg669Ter) and c.1771‐7C>G variant in heterozygous state identified by exome sequencing in POLR3A leading to WRS phenotype is described.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
- MedicineAmerican journal of human genetics
- 2018
Congenital generalized lipodystrophies—new insights into metabolic dysfunction
- Medicine, BiologyNature Reviews Endocrinology
- 2015
Aside from conventional therapy for hyperlipidaemia and diabetes mellitus, metreleptin replacement therapy can dramatically improve metabolic complications in patients with CGL.
Wiedemann–Rautenstrauch syndrome: A phenotype analysis
- MedicineAmerican journal of medical genetics. Part A
- 2017
Compared the WRS phenotype with characteristics of conditions known to be caused by autosomal recessively inherited POLR3A mutations, there are major differences but there are also similarities in phenotype, which sustain the suggestion that the syndrome can be cause by disturbed POLR 3A functioning.
Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders
- Biology, MedicineJournal of Cell Communication and Signaling
- 2020
Understanding the dynamic role of fibrillin-1 in the adipose tissue milieu and of circulating asprosin in the body can provide novel mechanistic insights into how fibrisin-1 may contribute to metabolic syndrome, which could lead to new management regimens of patients with metabolic disease.
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