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

[werner syndrome]

Segmental progeroid syndromes are a group of disorders with multiple features resembling accelerated aging . Adult-onset Werner syndrome (WS ) and childhood-onset Hutchinson-Gilford progeria syndrome are the best known examples . The discovery of genes responsible for such syndromes has facilitated our understanding of the basic mechanisms of aging as well as the pathogenesis of other common , age-related diseases . Our International Registry of Werner Syndrome accesses progeroid pedigrees from all over the world , including those for whom we have ruled out a mutation at the WRN locus . Cases without WRN mutations are operationally categorized as 'atypical WS ' (AWS ). In 2003 , we identified LMNA mutations among a subset of AWS cases using a candidate gene approach . As of 2013 , the Registry has 142 WS patients with WRN mutations , 11 AWS patients with LMNA mutations , and 49 AWS patients that have neither WRN nor LMNA mutations . Efforts are underway to identify the responsible genes for AWS with unknown genetic causes . While WS and AWS are rare disorders , the causative genes have been shown to have much wider implications for cancer , cardiovascular disease and the biology of aging . Remarkably , centenarian studies revealed WRN and LMNA polymorphic variants among those who have escaped various geriatric disorders .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated