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Atypical Werner syndrome

MedGen UID:
894770
•Concept ID:
C4275075
•
Disease or Syndrome
Synonyms: Atypical progeroid syndrome; atypical progeroid syndrome; atypical Werner syndrome
SNOMED CT: Atypical Werner syndrome (715633008); Atypical progeroid syndrome (715633008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Autosomal dominant inheritance (Orphanet)
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019321
Orphanet: ORPHA79474

Definition

Refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome but that do not carry WRN gene mutations. Similar to classical Werner Syndrome caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Compared to Werner Syndrome, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical Werner syndrome

Professional guidelines

PubMed

Prevalence of metabolic syndrome in patients with schizophrenia, and metabolic changes after 3 months of treatment with antipsychotics--results from a German observational study.
Kraemer S, Minarzyk A, Forst T, Kopf D, Hundemer HP
BMC Psychiatry 2011 Nov 1;11:173. doi: 10.1186/1471-244X-11-173. PMID: 22044502Free PMC Article

Recent clinical studies

Etiology

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
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Niedernhofer LJ, Oshima J
Hum Mutat 2018 Feb;39(2):255-265. Epub 2017 Nov 17 doi: 10.1002/humu.23367. PMID: 29105242Free PMC Article
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: 24401204Free PMC Article
Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C.
Ho JC, Zhou T, Lai WH, Huang Y, Chan YC, Li X, Wong NL, Li Y, Au KW, Guo D, Xu J, Siu CW, Pei D, Tse HF, Esteban MA
Aging (Albany NY) 2011 Apr;3(4):380-90. doi: 10.18632/aging.100277. PMID: 21483033Free PMC Article
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.
Renard D, Fourcade G, Milhaud D, Bessis D, Esteves-Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre-Giovannoli A
Stroke 2009 Feb;40(2):e11-4. Epub 2008 Dec 18 doi: 10.1161/STROKEAHA.108.531780. PMID: 19095983

Diagnosis

Atypical Werner Syndrome: Another Scleroderma-Like Fibrosing Disorder.
Suárez-Díaz S, Castaño-Álvarez J, Noval-Tuñón I, Coto-Hernández R, Caminal-Montero L
J Clin Rheumatol 2021 Dec 1;27(8S):S761-S763. doi: 10.1097/RHU.0000000000001500. PMID: 32732526
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
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
Sasaki H, Yanagi K, Ugi S, Kobayashi K, Ohkubo K, Tajiri Y, Maegawa H, Kashiwagi A, Kaname T
Endocr J 2018 Feb 26;65(2):227-238. Epub 2017 Dec 2 doi: 10.1507/endocrj.EJ17-0287. PMID: 29199204
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation.
Motegi S, Uchiyama A, Yamada K, Ogino S, Yokoyama Y, Perera B, Takeuchi Y, Ishikawa O
Exp Dermatol 2016 Aug;25 Suppl 3:20-7. doi: 10.1111/exd.13086. PMID: 27539898
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

Therapy

Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation.
Motegi S, Uchiyama A, Yamada K, Ogino S, Yokoyama Y, Perera B, Takeuchi Y, Ishikawa O
Exp Dermatol 2016 Aug;25 Suppl 3:20-7. doi: 10.1111/exd.13086. PMID: 27539898

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
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
Direct actin binding to A- and B-type lamin tails and actin filament bundling by the lamin A tail.
Simon DN, Zastrow MS, Wilson KL
Nucleus 2010 May-Jun;1(3):264-72. Epub 2010 Mar 11 doi: 10.4161/nucl.1.3.11799. PMID: 21327074Free PMC Article

Clinical prediction guides

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: 29581305Free PMC Article
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
Sasaki H, Yanagi K, Ugi S, Kobayashi K, Ohkubo K, Tajiri Y, Maegawa H, Kashiwagi A, Kaname T
Endocr J 2018 Feb 26;65(2):227-238. Epub 2017 Dec 2 doi: 10.1507/endocrj.EJ17-0287. PMID: 29199204
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.
Motegi S, Yokoyama Y, Uchiyama A, Ogino S, Takeuchi Y, Yamada K, Hattori T, Hashizume H, Ishikawa Y, Goto M, Ishikawa O
J Dermatol 2014 Dec;41(12):1047-52. Epub 2014 Oct 20 doi: 10.1111/1346-8138.12657. PMID: 25327215
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
Direct actin binding to A- and B-type lamin tails and actin filament bundling by the lamin A tail.
Simon DN, Zastrow MS, Wilson KL
Nucleus 2010 May-Jun;1(3):264-72. Epub 2010 Mar 11 doi: 10.4161/nucl.1.3.11799. PMID: 21327074Free PMC Article

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