메뉴 건너뛰기




Volumn 5, Issue 2, 2007, Pages 143-148

Novel LMNA mutation in a patient with progeroid phenotype

Author keywords

Lamin A C; Mandibuloacral dysplasia; Progeria

Indexed keywords

ADENINE; DNA; GLUTAMIC ACID; GUANINE; LAMIN A; LAMIN C; LYSINE; NUCLEOTIDE;

EID: 34347394723     PISSN: 13042580     EISSN: 18759041     Source Type: Journal    
DOI: 10.1055/s-0035-1557377     Document Type: Article
Times cited : (4)

References (33)
  • 1
    • 0038253709 scopus 로고
    • Case of congenital absence of hair, with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six
    • J. Hutchinson, Case of congenital absence of hair, with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six, Lancet 1 (1886), 923.
    • (1886) Lancet , vol.1 , pp. 923
    • Hutchinson, J.1
  • 2
    • 0037578194 scopus 로고
    • Ateleiosis and progeria: Continuous youth and premature old age
    • H. Gilford, Ateleiosis and progeria: Continuous youth and premature old age, BMJ 2 (1904), 914-918.
    • (1904) BMJ , vol.2 , pp. 914-918
    • Gilford, H.1
  • 3
    • 0037673950 scopus 로고    scopus 로고
    • Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
    • M. Eriksson, W.T. Brown, L.B. Gordon et al., Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome, Nature 423 (2003), 293-298.
    • (2003) Nature , vol.423 , pp. 293-298
    • Eriksson, M.1    Brown, W.T.2    Gordon, L.B.3
  • 4
    • 12244293441 scopus 로고    scopus 로고
    • Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    • G. Novelli, A. Muchir, F. Sangiuolo et al., Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C, Am J Hum Genet 71 (2002), 426-431.
    • (2002) Am J Hum Genet , vol.71 , pp. 426-431
    • Novelli, G.1    Muchir, A.2    Sangiuolo, F.3
  • 5
    • 0037564014 scopus 로고    scopus 로고
    • Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy
    • V. Simha, A. Agarwal, E. Oral, J. Fryns and A. Garg, Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy, J Clin Endocrinol Metab 88 (2003), 2821-2824.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 2821-2824
    • Simha, V.1    Agarwal, A.2    Oral, E.3    Fryns, J.4    Garg, A.5
  • 6
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
    • A.K. Agarwal, J.P. Fryns, R.J. Auchus and A. Garg, Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia, Hum Mol Genet 12 (2003), 1995-2001.
    • (2003) Hum Mol Genet , vol.12 , pp. 1995-2001
    • Agarwal, A.K.1    Fryns, J.P.2    Auchus, R.J.3    Garg, A.4
  • 7
    • 0038376023 scopus 로고    scopus 로고
    • LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
    • H. Cao and R.A. Hegele, LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090), J Hum Genet 48 (2003), 271-274.
    • (2003) J Hum Genet , vol.48 , pp. 271-274
    • Cao, H.1    Hegele, R.A.2
  • 8
    • 10744229294 scopus 로고    scopus 로고
    • Lamin A truncation in Hutchinson-Gilford progeria
    • A. De Sandre-Giovannoli, R. Bernard, P. Cau et al., Lamin A truncation in Hutchinson-Gilford progeria, Science 300 (2003), 2055.
    • (2003) Science , vol.300 , pp. 2055
    • De Sandre-Giovannoli, A.1    Bernard, R.2    Cau, P.3
  • 9
    • 3042850660 scopus 로고    scopus 로고
    • LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome
    • K. Fukuchi, T. Katsuya, K. Sugimoto et al., LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome, J Med Genet 41 (2004), e67.
    • (2004) J Med Genet , vol.41
    • Fukuchi, K.1    Katsuya, T.2    Sugimoto, K.3
  • 10
    • 4043122518 scopus 로고    scopus 로고
    • Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome
    • M. Plasilova, C. Chattopadhyay, P. Pal et al., Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome, J Med Genet 41 (2004 , 609-614.
    • (2004) J Med Genet , vol.41 , pp. 609-614
    • Plasilova, M.1    Chattopadhyay, C.2    Pal, P.3
  • 12
    • 0042736696 scopus 로고    scopus 로고
    • LMNA mutations in atypical Werner's syndrome
    • L. Chen, L. Lee, B.A. Kudlow et al., LMNA mutations in atypical Werner's syndrome, Lancet 362 (2003), 440-445.
    • (2003) Lancet , vol.362 , pp. 440-445
    • Chen, L.1    Lee, L.2    Kudlow, B.A.3
  • 13
    • 0036178210 scopus 로고    scopus 로고
    • Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
    • A. De Sandre-Giovannoli, M. Chaouch, S. Kozlov et al., Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse, Am J Hum Genet 70 (2002), 726-736.
    • (2002) Am J Hum Genet , vol.70 , pp. 726-736
    • De Sandre-Giovannoli, A.1    Chaouch, M.2    Kozlov, S.3
  • 14
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • D. Fatkin, C. MacRae, T. Sasaki et al., Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease, N Engl J Med 341 (1999), 1715-1724.
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 15
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • S. Bione, E. Maestrini, S. Rivella et al., Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy, Nat Genet 8 (1994), 323-327.
    • (1994) Nat Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3
  • 16
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • G. Bonne, M. Di Barletta, S. Varnous et al., Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy, Nat Genet 21 (1999), 285-288.
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.2    Varnous, S.3
  • 17
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear larnin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • H. Cao and R.A. Hegele, Nuclear larnin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy, Hum Mol Genet 9 (2000), 109-112.
    • (2000) Hum Mol Genet , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 18
    • 0037342243 scopus 로고    scopus 로고
    • A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
    • F. Caux, E. Dubosclard, O. Lascols et al., A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy, J Clin Endocrinol Metab 88 (2003), 1006-1013.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1006-1013
    • Caux, F.1    Dubosclard, E.2    Lascols, O.3
  • 19
    • 0037211466 scopus 로고    scopus 로고
    • The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
    • M. Chaouch, Y. Allal, A. De Sandre-Giovannoli et al., The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene, Neuromuscul Disord 13 (2003), 60-67.
    • (2003) Neuromuscul Disord , vol.13 , pp. 60-67
    • Chaouch, M.1    Allal, Y.2    De Sandre-Giovannoli, A.3
  • 21
    • 0034074434 scopus 로고    scopus 로고
    • R. Hegele, C. Anderson, J. Wang, D. Jones and H. Cao, Association Between Nuclear Lamin A/C R482Q Mutation and Partial Lipodystrophy with Hyperinsulinemia, Dyslipidemia, Hypertension, and Diabetes, Genome Res 10 (2000), 652-658.
    • R. Hegele, C. Anderson, J. Wang, D. Jones and H. Cao, Association Between Nuclear Lamin A/C R482Q Mutation and Partial Lipodystrophy with Hyperinsulinemia, Dyslipidemia, Hypertension, and Diabetes, Genome Res 10 (2000), 652-658.
  • 22
    • 0036699522 scopus 로고    scopus 로고
    • Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly)
    • K. Hoffmann, C. Dreger, A. Olins et al., Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly), Nat Genet 31 (2002), 410-414.
    • (2002) Nat Genet , vol.31 , pp. 410-414
    • Hoffmann, K.1    Dreger, C.2    Olins, A.3
  • 23
    • 0034882439 scopus 로고    scopus 로고
    • A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block
    • T. Kitaguchi, S. Matsubara, M. Sato et al., A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block, Neuromuscul Disord 11 (2001), 542-546.
    • (2001) Neuromuscul Disord , vol.11 , pp. 542-546
    • Kitaguchi, T.1    Matsubara, S.2    Sato, M.3
  • 24
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • A. Muchir, G. Bonne, A. van der Kooi et al., Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B), Hum Mol Genet 9 (2000), 1453-1459.
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.3
  • 25
    • 19544374472 scopus 로고    scopus 로고
    • Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
    • C. Navarro, A. De Sandre-Giovannoli, R. Bernard et al., Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy, Hum Mol Genet 13 (2004), 2493-2503.
    • (2004) Hum Mol Genet , vol.13 , pp. 2493-2503
    • Navarro, C.1    De Sandre-Giovannoli, A.2    Bernard, R.3
  • 26
    • 12244293441 scopus 로고    scopus 로고
    • Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    • G. Novelli, A. Muchir, F. Sangiuolo et al., Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C, Am J Hum Genet 71 (2002), 426-431.
    • (2002) Am J Hum Genet , vol.71 , pp. 426-431
    • Novelli, G.1    Muchir, A.2    Sangiuolo, F.3
  • 27
    • 0033951216 scopus 로고    scopus 로고
    • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
    • S. Shackleton, D. Lloyd, S. Jackson et al., LMNA, encoding lamin A/C, is mutated in partial lipodystrophy, Nat Genet 24 (2000), 153-156.
    • (2000) Nat Genet , vol.24 , pp. 153-156
    • Shackleton, S.1    Lloyd, D.2    Jackson, S.3
  • 28
    • 12244285280 scopus 로고    scopus 로고
    • Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: A single gene model for human Pelger-Huet anomaly
    • L. Shultz, B. Lyons, L. Burzenski et al., Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: A single gene model for human Pelger-Huet anomaly, Hum Mol Genet 12 (2003), 61-69.
    • (2003) Hum Mol Genet , vol.12 , pp. 61-69
    • Shultz, L.1    Lyons, B.2    Burzenski, L.3
  • 29
    • 0345535128 scopus 로고    scopus 로고
    • Autosomal recessive HEM/ Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene
    • H. Waterham, J. Koster, P. Mooyer et al., Autosomal recessive HEM/ Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene, Am J Hum Genet 72 (2003), 1013-1017.
    • (2003) Am J Hum Genet , vol.72 , pp. 1013-1017
    • Waterham, H.1    Koster, J.2    Mooyer, P.3
  • 31
    • 4444220588 scopus 로고    scopus 로고
    • Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome
    • C.J. Reddel and A.S. Weiss, Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome, J Med Genet 41 (2004), 715-717.
    • (2004) J Med Genet , vol.41 , pp. 715-717
    • Reddel, C.J.1    Weiss, A.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.