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Beckwith-Wiedemann syndrome
American journal of medical genetics. Part C, Seminars in medical genetics, 2010-08, Vol.154C (3), p.343-354
Choufani, Sanaa
Shuman, Cheryl
Weksberg, Rosanna
2010
Details
Autor(en) / Beteiligte
Choufani, Sanaa
Shuman, Cheryl
Weksberg, Rosanna
Titel
Beckwith-Wiedemann syndrome
Ist Teil von
American journal of medical genetics. Part C, Seminars in medical genetics, 2010-08, Vol.154C (3), p.343-354
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2010
Link zum Volltext
Quelle
Alma/SFX Local Collection
Beschreibungen/Notizen
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of reported BWS cases are sporadic, while the remaining 15% are familial. BWS is caused by epigenetic or genomic alterations which disrupt genes in one or both of the two imprinted domains on chromosome 11p15.5. In each domain, an imprinting center regulates the expression of imprinted genes in cis. Normally in domain 1, insulin‐like growth factor 2 (IGF2) and the untranslated mRNA H19 are monoallelically expressed. In BWS, increased expression of IGF2 occurs via several mechanisms. In domain 2, CDKN1C, a growth repressor, and an untranslated RNA, KCNQ1OT1, are normally expressed monoallelically. In cases of BWS, several mechanisms result in reduced expression of CDKN1C. Recent reports of BWS cases have identified mutations outside the chromosome 11p15.5 critical region, thereby broadening the challenges in the diagnosis and genetic counseling of individuals and families with BWS. © 2010 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4868, 1552-4876
eISSN: 1552-4876
DOI: 10.1002/ajmg.c.30267
Titel-ID: cdi_proquest_miscellaneous_749006048
Format
–
Schlagworte
Beckwith-Wiedemann syndrome
,
Beckwith-Wiedemann Syndrome - genetics
,
chromosome 11
,
chromosome 11p15 imprinted region
,
Chromosomes, Human, Pair 11
,
Congenital defects
,
DNA Methylation
,
epigenetics
,
Genetic Predisposition to Disease
,
Genomic Imprinting
,
genomics
,
Humans
,
Imprinting
,
Insulin-like growth factor II
,
Insulin-like growth factors
,
KCNQ1OT1 protein
,
mRNA
,
multilocus loss of methylation
,
Mutation
,
Potassium channels (voltage-gated)
,
Potassium Channels, Voltage-Gated - physiology
,
Repressors
,
RNA, Untranslated - genetics
,
Tumors
,
Uniparental Disomy
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