Research ExplorerPublicationsCoronary artery disease in a Werner syndrome-like form of pr...

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

Standard

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. / Hisama, Fuki M; Lessel, Davor; Leistritz, Dru; Friedrich, Katrin; McBride, Kim L; Pastore, Matthew T; Gottesman, Gary S; Saha, Bidisha; Martin, George M; Kubisch, Christian; Oshima, Junko.

In: AM J MED GENET A, Vol. 155A, No. 12, 12, 2011, p. 3002-3006.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hisama, FM, Lessel, D, Leistritz, D, Friedrich, K, McBride, KL, Pastore, MT, Gottesman, GS, Saha, B, Martin, GM, Kubisch, C & Oshima, J 2011, 'Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.', AM J MED GENET A, vol. 155A, no. 12, 12, pp. 3002-3006. <http://www.ncbi.nlm.nih.gov/pubmed/22065502?dopt=Citation>

APA

Hisama, F. M., Lessel, D., Leistritz, D., Friedrich, K., McBride, K. L., Pastore, M. T., Gottesman, G. S., Saha, B., Martin, G. M., Kubisch, C., & Oshima, J. (2011). Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. AM J MED GENET A, 155A(12), 3002-3006. [12]. http://www.ncbi.nlm.nih.gov/pubmed/22065502?dopt=Citation

Vancouver

Hisama FM, Lessel D, Leistritz D, Friedrich K, McBride KL, Pastore MT et al. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. AM J MED GENET A. 2011;155A(12):3002-3006. 12.

Bibtex

@article{a6b51293bd0a4744862e67e70a9870b6,
title = "Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.",
abstract = "Classical Hutchinson-Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin. HGPS patients present in early childhood with atherosclerosis and striking features of accelerated aging. We report on two pedigrees of adult-onset coronary artery disease with progeroid features, who were referred to our International Registry of Werner Syndrome (WS) because of clinical features consistent with the diagnosis. No mutations were identified in the WRN gene that is responsible for WS, among these patients. Instead, we found two novel heterozygous mutations at the junction of exon 10 and intron 11 of the LMNA gene. These mutations resulted in the production of progerin at a level substantially lower than that of HGPS. Our findings indicate that LMNA mutations may result in coronary artery disease presenting in the fourth to sixth decades along with short stature and a progeroid appearance resembling WS. The absence of early-onset cataracts in this setting should suggest the diagnosis of progeroid laminopathy. This study illustrates the evolving genotype-phenotype relationship between the amount of progerin produced and the age of onset among the spectrum of restrictive dermopathy, HGPS, and atypical forms of WS.",
keywords = "Adult, Humans, Male, Female, Middle Aged, Adolescent, Young Adult, Child, Mutation, Base Sequence, Nuclear Proteins/*genetics, Exons, Facies, *Alternative Splicing, Coronary Artery Disease/diagnosis/*etiology/*genetics, Lamin Type A/*genetics, Progeria/*complications/diagnosis/*genetics, Protein Precursors/*genetics, Werner Syndrome/genetics, Adult, Humans, Male, Female, Middle Aged, Adolescent, Young Adult, Child, Mutation, Base Sequence, Nuclear Proteins/*genetics, Exons, Facies, *Alternative Splicing, Coronary Artery Disease/diagnosis/*etiology/*genetics, Lamin Type A/*genetics, Progeria/*complications/diagnosis/*genetics, Protein Precursors/*genetics, Werner Syndrome/genetics",
author = "Hisama, {Fuki M} and Davor Lessel and Dru Leistritz and Katrin Friedrich and McBride, {Kim L} and Pastore, {Matthew T} and Gottesman, {Gary S} and Bidisha Saha and Martin, {George M} and Christian Kubisch and Junko Oshima",
year = "2011",
language = "English",
volume = "155A",
pages = "3002--3006",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "12",

}

RIS

TY - JOUR

T1 - Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

AU - Hisama, Fuki M

AU - Lessel, Davor

AU - Leistritz, Dru

AU - Friedrich, Katrin

AU - McBride, Kim L

AU - Pastore, Matthew T

AU - Gottesman, Gary S

AU - Saha, Bidisha

AU - Martin, George M

AU - Kubisch, Christian

AU - Oshima, Junko

PY - 2011

Y1 - 2011

N2 - Classical Hutchinson-Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin. HGPS patients present in early childhood with atherosclerosis and striking features of accelerated aging. We report on two pedigrees of adult-onset coronary artery disease with progeroid features, who were referred to our International Registry of Werner Syndrome (WS) because of clinical features consistent with the diagnosis. No mutations were identified in the WRN gene that is responsible for WS, among these patients. Instead, we found two novel heterozygous mutations at the junction of exon 10 and intron 11 of the LMNA gene. These mutations resulted in the production of progerin at a level substantially lower than that of HGPS. Our findings indicate that LMNA mutations may result in coronary artery disease presenting in the fourth to sixth decades along with short stature and a progeroid appearance resembling WS. The absence of early-onset cataracts in this setting should suggest the diagnosis of progeroid laminopathy. This study illustrates the evolving genotype-phenotype relationship between the amount of progerin produced and the age of onset among the spectrum of restrictive dermopathy, HGPS, and atypical forms of WS.

AB - Classical Hutchinson-Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin. HGPS patients present in early childhood with atherosclerosis and striking features of accelerated aging. We report on two pedigrees of adult-onset coronary artery disease with progeroid features, who were referred to our International Registry of Werner Syndrome (WS) because of clinical features consistent with the diagnosis. No mutations were identified in the WRN gene that is responsible for WS, among these patients. Instead, we found two novel heterozygous mutations at the junction of exon 10 and intron 11 of the LMNA gene. These mutations resulted in the production of progerin at a level substantially lower than that of HGPS. Our findings indicate that LMNA mutations may result in coronary artery disease presenting in the fourth to sixth decades along with short stature and a progeroid appearance resembling WS. The absence of early-onset cataracts in this setting should suggest the diagnosis of progeroid laminopathy. This study illustrates the evolving genotype-phenotype relationship between the amount of progerin produced and the age of onset among the spectrum of restrictive dermopathy, HGPS, and atypical forms of WS.

KW - Adult

KW - Humans

KW - Male

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Young Adult

KW - Child

KW - Mutation

KW - Base Sequence

KW - Nuclear Proteins/genetics

KW - Exons

KW - Facies

KW - Alternative Splicing

KW - Coronary Artery Disease/diagnosis/etiology/genetics

KW - Lamin Type A/genetics

KW - Progeria/complications/diagnosis/genetics

KW - Protein Precursors/genetics

KW - Werner Syndrome/genetics

KW - Adult

KW - Humans

KW - Male

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Young Adult

KW - Child

KW - Mutation

KW - Base Sequence

KW - Nuclear Proteins/genetics

KW - Exons

KW - Facies

KW - Alternative Splicing

KW - Coronary Artery Disease/diagnosis/etiology/genetics

KW - Lamin Type A/genetics

KW - Progeria/complications/diagnosis/genetics

KW - Protein Precursors/genetics

KW - Werner Syndrome/genetics

M3 - SCORING: Journal article

VL - 155A

SP - 3002

EP - 3006

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 12

M1 - 12

ER -