Progeria classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Progeria may be classified according to genotype into two groups: Classic progeria and atypical progeria.

Classification

Progeria may be classified according to genotype into two groups:^[1]


Group	Classification of Hutchinson-Gilford Progeria Syndrome	Cause
Group 1	Classic Hutchinson-Gilford progeria syndrome	Due to nucleotide substitution in the lamin A/C gene LMNA(c.1824C>T [p.Gly608Gly])
Group 2	Atypical Hutchinson-Gilford progeria syndrome	Due to a variety of pathogenic variants in intron 11 of the LMNA gene

Other Non-progeroid laminopathies associated with LMNA gene mutations which produces atypical or truncated protein A lamin:^[2]^[3]^[4]^[5]^[6]^[7]^[8]
- Emery-Dreifuss muscular dystrophy(Autosomal dominant)
- Emery-Dreifuss muscular dystrophy(Autosomal recessive)
- Familial dilated cardiomyopathy(Autosomal dominant)
- Dilated cardiomyopathy and hypergonadotropic hypogonadism
- Dilated cardiomyopathy with apical left ventricular aneurysm(Autosomal dominant)
- Mandibuloacral dysplasia(Autosomal recessive)^[9]
- Heart-hand syndrome, Slovenian type
- Petty-Laxova-Wiedemann progeroid syndrome^[10]
- Charcot-Marie-Tooth type 2B1
- Restrictive dermopathy^[11]^[12]
- Familial partial lipodystrophy type 2
- Dunnigan-type familial partial lipodystrophy (FPLD), (Autosomal dominant)
- Limb-girdle muscular dystrophy^[13]
- Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy^[14]

References

↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). “GeneReviews®”. PMID 20301300.
↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). “GeneReviews®”. PMID 20301609.
↑ Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A; et al. (2008). “HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches”. Mech Ageing Dev. 129 (7–8): 449–59. doi:10.1016/j.mad.2008.04.003. PMID 18513784.
↑ Ikeda Y, Kumagai H, Motozawa Y, Suzuki J, Akazawa H, Komuro I (2016). “Understanding Vascular Diseases: Lessons From Premature Aging Syndromes”. Can J Cardiol. 32 (5): 650–8. doi:10.1016/j.cjca.2015.12.003. PMID 26948039.
↑ Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y; et al. (2003). “LMNA mutations in atypical Werner’s syndrome”. Lancet. 362 (9382): 440–5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431.
↑ De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N; et al. (2002). “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 (3): 726–36. doi:10.1086/339274. PMC 384949. PMID 11799477.
↑ Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L; et al. (2008). “Heart-hand syndrome of Slovenian type: a new kind of laminopathy”. J Med Genet. 45 (10): 666–71. doi:10.1136/jmg.2008.060020. PMID 18611980.
↑ Pollex RL, Hegele RA (2004). “Hutchinson-Gilford progeria syndrome”. Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
↑ Cenni V, D’Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C; et al. (2018). “Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing”. Ageing Res Rev. 42: 1–13. doi:10.1016/j.arr.2017.12.001. PMID 29208544.
↑ Delgado-Luengo WN, Petty EM, Solís-Añez E, Römel O, Delgado-Luengo J, Hernández ML; et al. (2009). “Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging”. Am J Med Genet A. 149A (10): 2200–5. doi:10.1002/ajmg.a.32884. PMID 19725131.
↑ McKenna T, Sola Carvajal A, Eriksson M (2015). “Skin Disease in Laminopathy-Associated Premature Aging”. J Invest Dermatol. 135 (11): 2577–2583. doi:10.1038/jid.2015.295. PMID 26290387.
↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). “Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology”. Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
↑ Gallardo E, Saenz A, Illa I (2011). “Limb-girdle muscular dystrophy 2A”. Handb Clin Neurol. 101: 97–110. doi:10.1016/B978-0-08-045031-5.00006-2. PMID 21496626.
↑ Malouf J, Alam S, Kanj H, Mufarrij A, Der Kaloustian VM (1985). “Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder?”. Am J Med Genet. 20 (3): 483–9. doi:10.1002/ajmg.1320200309. PMID 3993676.

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[pmid20301300-1] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). “GeneReviews®”. PMID 20301300.

[pmid20301609-2] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). “GeneReviews®”. PMID 20301609.

[pmid18513784-3] Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A; et al. (2008). “HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches”. Mech Ageing Dev. 129 (7–8): 449–59. doi:10.1016/j.mad.2008.04.003. PMID 18513784.

[pmid26948039-4] Ikeda Y, Kumagai H, Motozawa Y, Suzuki J, Akazawa H, Komuro I (2016). “Understanding Vascular Diseases: Lessons From Premature Aging Syndromes”. Can J Cardiol. 32 (5): 650–8. doi:10.1016/j.cjca.2015.12.003. PMID 26948039.

[pmid12927431-5] Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y; et al. (2003). “LMNA mutations in atypical Werner’s syndrome”. Lancet. 362 (9382): 440–5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431.

[pmid11799477-6] De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N; et al. (2002). “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 (3): 726–36. doi:10.1086/339274. PMC 384949. PMID 11799477.

[pmid18611980-7] Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L; et al. (2008). “Heart-hand syndrome of Slovenian type: a new kind of laminopathy”. J Med Genet. 45 (10): 666–71. doi:10.1136/jmg.2008.060020. PMID 18611980.

[pmid15479179-8] Pollex RL, Hegele RA (2004). “Hutchinson-Gilford progeria syndrome”. Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.

[pmid29208544-9] Cenni V, D’Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C; et al. (2018). “Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing”. Ageing Res Rev. 42: 1–13. doi:10.1016/j.arr.2017.12.001. PMID 29208544.

[pmid19725131-10] Delgado-Luengo WN, Petty EM, Solís-Añez E, Römel O, Delgado-Luengo J, Hernández ML; et al. (2009). “Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging”. Am J Med Genet A. 149A (10): 2200–5. doi:10.1002/ajmg.a.32884. PMID 19725131.

[pmid26290387-11] McKenna T, Sola Carvajal A, Eriksson M (2015). “Skin Disease in Laminopathy-Associated Premature Aging”. J Invest Dermatol. 135 (11): 2577–2583. doi:10.1038/jid.2015.295. PMID 26290387.

[pmid9606327-12] Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). “Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology”. Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.

[pmid21496626-13] Gallardo E, Saenz A, Illa I (2011). “Limb-girdle muscular dystrophy 2A”. Handb Clin Neurol. 101: 97–110. doi:10.1016/B978-0-08-045031-5.00006-2. PMID 21496626.

[pmid3993676-14] Malouf J, Alam S, Kanj H, Mufarrij A, Der Kaloustian VM (1985). “Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder?”. Am J Med Genet. 20 (3): 483–9. doi:10.1002/ajmg.1320200309. PMID 3993676.

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