Atypical Progeroid Syndrome and Partial Lipodystrophy Due to
LMNA mutation
atypical progeroid syndrome
lipodystrophy
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Oct 2020
01 Oct 2020
Historique:
received:
22
07
2020
entrez:
11
9
2020
pubmed:
12
9
2020
medline:
12
9
2020
Statut:
epublish
Résumé
Atypical progeroid syndrome (APS) comprises heterogeneous disorders characterized by variable degrees of fat loss, metabolic alterations, and comorbidities that affect skeleton, muscles, and/or the heart. We describe 3 patients that were referred to our center for the suspicion of lipodystrophy. They had precocious aging traits such as short stature, mandibular hypoplasia, beaked nose, and partial alopecia manifesting around 10 to 15 years of age recurrently associated with: (1) partial lipodystrophy; (2) proteinuric nephropathy; (3) heart disease (rhythm disorders, valvular abnormalities, and cardiomyopathy); and (4) sensorineural hearing impairment. In all patients, genetic testing revealed a missense heterozygous lamin A/C gene (
Identifiants
pubmed: 32913962
doi: 10.1210/jendso/bvaa108
pii: bvaa108
pmc: PMC7474543
doi:
Types de publication
Case Reports
Langues
eng
Pagination
bvaa108Informations de copyright
© Endocrine Society 2020.
Références
Endocr J. 2019 Nov 28;66(11):961-969
pubmed: 31270292
Metabolism. 2017 Jul;72:109-119
pubmed: 28641778
Cells. 2016 Aug 11;5(3):
pubmed: 27529282
J Clin Endocrinol Metab. 2004 Jul;89(7):3199-207
pubmed: 15240593
Front Endocrinol (Lausanne). 2018 Aug 03;9:433
pubmed: 30123186
J Clin Endocrinol Metab. 2015 May;100(5):1802-10
pubmed: 25734254
J Pathol. 2012 Jan;226(2):316-25
pubmed: 21953297
J Clin Endocrinol Metab. 2002 May;87(5):2395
pubmed: 11994394
Am J Hum Genet. 2013 Jul 11;93(1):158-66
pubmed: 23810382
Metabolism. 2014 Nov;63(11):1385-9
pubmed: 25131834
J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511
pubmed: 27710244
Am J Med Genet A. 2008 Jun 15;146A(12):1530-42
pubmed: 18478590
Acta Myol. 2013 May;32(1):7-17
pubmed: 23853504
Nephron Clin Pract. 2004;96(2):c35-8
pubmed: 14988595
Clin Endocrinol (Oxf). 2017 May;86(5):698-707
pubmed: 28199729
J Clin Endocrinol Metab. 2009 Dec;94(12):4971-83
pubmed: 19875478
Eur J Endocrinol. 2012 Sep;167(3):423-31
pubmed: 22700598
Int J Obes (Lond). 2012 Mar;36(3):336-41
pubmed: 22143620
J Mol Biol. 2004 Oct 29;343(4):1067-80
pubmed: 15476822
Lancet. 2003 Aug 9;362(9382):440-5
pubmed: 12927431
Am J Med Genet A. 2012 Nov;158A(11):2881-7
pubmed: 22991222
Am J Med. 2002 May;112(7):549-55
pubmed: 12015247
Mech Ageing Dev. 2013 May-Jun;134(5-6):161-70
pubmed: 23428416
Am Heart J. 2007 Dec;154(6):1130-9
pubmed: 18035086
Nephron Clin Pract. 2013;124(1-2):31-7
pubmed: 24080738
Endocrine. 2009 Feb;35(1):18-21
pubmed: 19011997
Endocrinol Diabetes Metab Case Rep. 2017 Jun 02;2017:
pubmed: 28620495
J Endocrinol Invest. 2019 Jan;42(1):61-73
pubmed: 29704234
Mol Genet Metab. 2006 Apr;87(4):289-302
pubmed: 16364671
Hum Mol Genet. 2005 Jun 1;14(11):1489-502
pubmed: 15843404
Genome Biol. 2011;12(5):222
pubmed: 21639948
Orphanet J Rare Dis. 2020 Jan 15;15(1):17
pubmed: 31941540
J Clin Endocrinol Metab. 2018 Mar 1;103(3):1005-1014
pubmed: 29267953
Nat Genet. 2013 Aug;45(8):947-50
pubmed: 23770608