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Hutchinson-Gilford progeria syndrome, atypical

MedGen UID:: 864678
•Concept ID:: C4016241
•: Finding

Synonym:	HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL

OMIM®:	150330

Recent clinical studies

Etiology

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.

Díaz-López EJ, Sánchez-Iglesias S, Castro AI, Cobelo-Gómez S, Prado-Moraña T, Araújo-Vilar D, Fernandez-Pombo A
Int J Mol Sci 2024 Aug 28;25(17) doi: 10.3390/ijms25179324. PMID: 39273270 Free PMC Article

Sclerodermalike syndromes: Great imitators.

Varjú C, Kumánovics G, Czirják L, Matucci-Cerinic M, Minier T
Clin Dermatol 2020 Mar-Apr;38(2):235-249. Epub 2019 Oct 24 doi: 10.1016/j.clindermatol.2019.10.010. PMID: 32513403

Lamin A involvement in ageing processes.

Cenni V, Capanni C, Mattioli E, Schena E, Squarzoni S, Bacalini MG, Garagnani P, Salvioli S, Franceschi C, Lattanzi G
Ageing Res Rev 2020 Sep;62:101073. Epub 2020 May 21 doi: 10.1016/j.arr.2020.101073. PMID: 32446955

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Oshima J, Hisama FM
Gerontology 2014;60(3):239-46. Epub 2014 Jan 3 doi: 10.1159/000356030. PMID: 24401204 Free PMC Article

Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.

Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, Harper JI
Br J Dermatol 2007 Jun;156(6):1308-14. Epub 2007 Apr 25 doi: 10.1111/j.1365-2133.2007.07897.x. PMID: 17459035

See all (16)

Diagnosis

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.

Sclerodermalike syndromes: Great imitators.

Varjú C, Kumánovics G, Czirják L, Matucci-Cerinic M, Minier T
Clin Dermatol 2020 Mar-Apr;38(2):235-249. Epub 2019 Oct 24 doi: 10.1016/j.clindermatol.2019.10.010. PMID: 32513403

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.

He G, Yan Z, Sun L, Lv Y, Guo W, Gang X, Wang G
Endocr J 2019 Nov 28;66(11):961-969. Epub 2019 Jul 4 doi: 10.1507/endocrj.EJ19-0014. PMID: 31270292

Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.

Hutchinson-Gilford progeria syndrome.

Pollex RL, Hegele RA
Clin Genet 2004 Nov;66(5):375-81. doi: 10.1111/j.1399-0004.2004.00315.x. PMID: 15479179

See all (20)

Therapy

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.

Fukaishi T, Minami I, Masuda S, Miyachi Y, Tsujimoto K, Izumiyama H, Hashimoto K, Yoshida M, Takahashi S, Kashimada K, Morio T, Kosaki K, Maezawa Y, Yokote K, Yoshimoto T, Yamada T
Endocr J 2020 Feb 28;67(2):211-218. Epub 2019 Nov 8 doi: 10.1507/endocrj.EJ19-0226. PMID: 31708526

Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.

Toni L, Dušátková P, Novotná D, Zemková D, Průhová Š, Lebl J
J Pediatr Endocrinol Metab 2019 Jul 26;32(7):775-779. doi: 10.1515/jpem-2019-0107. PMID: 31199775

See all (2)

Prognosis

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.

He G, Yan Z, Sun L, Lv Y, Guo W, Gang X, Wang G
Endocr J 2019 Nov 28;66(11):961-969. Epub 2019 Jul 4 doi: 10.1507/endocrj.EJ19-0014. PMID: 31270292

Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.

Toni L, Dušátková P, Novotná D, Zemková D, Průhová Š, Lebl J
J Pediatr Endocrinol Metab 2019 Jul 26;32(7):775-779. doi: 10.1515/jpem-2019-0107. PMID: 31199775

Skin Disease in Laminopathy-Associated Premature Aging.

McKenna T, Sola Carvajal A, Eriksson M
J Invest Dermatol 2015 Nov;135(11):2577-2583. Epub 2015 Jul 29 doi: 10.1038/jid.2015.295. PMID: 26290387

An inherited LMNA gene mutation in atypical Progeria syndrome.

Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A
Am J Med Genet A 2012 Nov;158A(11):2881-7. Epub 2012 Sep 18 doi: 10.1002/ajmg.a.35557. PMID: 22991222

Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.

See all (13)

Clinical prediction guides

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A
Am J Med Genet A 2023 Sep;191(9):2274-2289. Epub 2023 Jun 30 doi: 10.1002/ajmg.a.63335. PMID: 37387251

Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.

DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS
Proc Natl Acad Sci U S A 2018 Apr 17;115(16):4206-4211. Epub 2018 Mar 26 doi: 10.1073/pnas.1802811115. PMID: 29581305 Free PMC Article

Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation.

Gruenbaum Y, Foisner R
Annu Rev Biochem 2015;84:131-64. Epub 2015 Feb 26 doi: 10.1146/annurev-biochem-060614-034115. PMID: 25747401

The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?

Arboleda G, Ramírez N, Arboleda H
Exp Gerontol 2007 Oct;42(10):939-43. Epub 2007 Jul 19 doi: 10.1016/j.exger.2007.07.004. PMID: 17728088

Hutchinson-Gilford progeria syndrome.

Pollex RL, Hegele RA
Clin Genet 2004 Nov;66(5):375-81. doi: 10.1111/j.1399-0004.2004.00315.x. PMID: 15479179

See all (18)