LMNA mutations in atypical Werner's syndrome

Chen, Lishan; Lei, Lin; Kudlow, Brian A.; Santos, Heloísa G. dos; Sletvold, Olav; Shafeghati, Yousef; Botha, Eleanor G.; Garg, Abhimanyu; Hanson, Nancy; Martin, George M.; Mian, I. Saira; Kennedy, Brian K.; Oshima, Junko

doi:10.1016/s0140-6736(03)14069-x

Cited by 381 publications

(305 citation statements)

References 26 publications

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“…Neither of the parents carried this mutation, indicating that this was a de novo mutation. This change was not seen in any of 116 controls from a population-based sample of elderly US residents, most of whom were of northern European origin (DNA bank, National LongTerm Care Survey (Department of Pathology, University of Washington, Seattle, WA, USA) [10], thus making it unlikely that this was a polymorphism.…”

Section: Case Reportmentioning

confidence: 96%

“…Each exon of the LMNA gene was amplified and sequenced with an ABI PRIZM 310 (Applied Biosystems, Foster City, CA) according to the manufacturer's instruction [10].…”

Section: Nucleotide Sequencingmentioning

confidence: 99%

“…Nuclei were visualized with the Nikon Upright Microscope at the Keck Center for Imaging, University of Washington. Seattle, WA [10,26]. For the quantitation of nuclear irregularity, nuclear contour ratio was determined in minimum of a hundred randomly chosen nuclei with the MetaMorph program.…”

Section: Cell Culture and Nuclear Morphologymentioning

confidence: 99%

“…Amino acid substitutions comprise the majority of disease-causing LMNA mutations [2]. These are located across the coding region and can result in Emery-Dreifuss muscular dystrophy (EDMD2, autosomal dominant, and EDMD3, autosomal recessive) [5], dilated cardiomyopathy (DCM1A) [6] , limb-girdle muscular dystrophy type 1B (LGMD1B) [7], Dunnigan-type familial partial lipodystrophy (FPLD2) [8], mandibuloacral dysplasia (MAD) [9], and atypical Werner syndrome [10]. A small number of truncation mutations are also reported in DCM and muscular dystrophies [2].…”

Section: Introductionmentioning

confidence: 99%

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Collagen expression in fibroblasts with a novel LMNA mutation

Nguyen

Leistritz

Turner

et al. 2007

Biochemical and Biophysical Research Communications

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Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. Examination of the nuclei of dermal fibroblasts revealed the irregular morphology characteristic of LMNA mutant cells. The nuclear morphological abnormalities of LMNA mutant lymphoblastoid cell lines were less prominent compared to those of primary fibroblasts. Since it has been reported that progeroid features are associated with increased extracellular matrix in dermal tissues, we compared a subset of these components in fibroblast cultures from LMNA mutants with those of control fibroblasts. There was no evidence of intracellular accumulation or altered mobility of collagen chains, or altered conversion of procollagen to collagen, suggesting that skin fibroblastmediated matrix production may not play a significant role in the pathogenesis of this particular laminopathy.

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Section: Case Reportmentioning

confidence: 96%

“…Each exon of the LMNA gene was amplified and sequenced with an ABI PRIZM 310 (Applied Biosystems, Foster City, CA) according to the manufacturer's instruction [10].…”

Section: Nucleotide Sequencingmentioning

confidence: 99%

Section: Cell Culture and Nuclear Morphologymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Collagen expression in fibroblasts with a novel LMNA mutation

Nguyen

Leistritz

Turner

et al. 2007

Biochemical and Biophysical Research Communications

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“…Typical Werner syndrome (OMIM: #277700) is an autosomal‐recessive progeroid disorder manifesting in adulthood that is caused by mutations in WRN encoding REQL2, a member of the RECQ family of DNA helicases. AWS is an autosomal‐dominant disease caused by a heterozygous mutation in LMNA (Chen et al., 2003). The initial symptoms of premature aging in AWS begin classically 6 years earlier than in the typical form (e.g., loss of hair, bilateral cataract, and scleroderma‐like skin changes).…”

Section: Mirnas In Hereditary Laminopathiesmentioning

confidence: 99%

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

et al. 2018

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SummaryHereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified as tissue‐specific or systemic diseases. The latter mostly manifest with several accelerated aging features, as in Hutchinson–Gilford progeria syndrome (HGPS) and other progeroid syndromes. MicroRNAs are small noncoding RNAs described as powerful regulators of gene expression, mainly by degrading target mRNAs or by inhibiting their translation. In recent years, the role of these small RNAs has become an object of study in laminopathies using in vitro or in vivo murine models as well as cells/tissues of patients. To date, few miRNAs have been reported to exert protective effects in laminopathies, including miR‐9, which prevents progerin accumulation in HGPS neurons. The recent literature has described the potential implication of several other miRNAs in the pathophysiology of laminopathies, mostly by exerting deleterious effects. This review provides an overview of the current knowledge of the functional relevance and molecular insights of miRNAs in laminopathies. Furthermore, we discuss how these discoveries could help to better understand these diseases at the molecular level and could pave the way toward identifying new potential therapeutic targets and strategies based on miRNA modulation.

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The Congenital and Limb-Girdle Muscular Dystrophies

Kirschner

Bönnemann²

2004

Arch Neurol

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During the past decade, outstanding progress in the areas of congenital and limb-girdle muscular dystrophies has led to staggering clinical and genetic complexity. With the identification of an increasing number of genetic defects, individual entities have come into sharper focus and new pathogenic mechanisms for muscular dystrophies, like defects of posttranslational O-linked glycosylation, have been discovered. At the same time, this progress blurs the traditional boundaries between the categories of congenital and limb-girdle muscular dystrophies, as well as between limb-girdle muscular dystrophies and other clinical entities, as mutations in genes such as fukutin-related protein, dysferlin, caveolin-3 and lamin A/C can cause a striking variety of phenotypes. We reviewed the different groups of proteins currently recognized as being involved in congenital and limb-girdle muscular dystrophies, associated them with the clinical phenotypes, and determined some clinical and molecular clues that are helpful in the diagnostic approach to these patients.

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LMNA mutations in atypical Werner's syndrome

Cited by 381 publications

References 26 publications

Collagen expression in fibroblasts with a novel LMNA mutation

Collagen expression in fibroblasts with a novel LMNA mutation

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

The Congenital and Limb-Girdle Muscular Dystrophies

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