Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.
Adolescent
Adult
Beckwith-Wiedemann Syndrome
/ diagnosis
Child
Child, Preschool
Cohort Studies
Female
Genetic Testing
Humans
Hypertrophy
/ diagnosis
Infant
Infant, Newborn
Male
Microsatellite Repeats
Molecular Diagnostic Techniques
Neoplasms, Germ Cell and Embryonal
/ complications
Retrospective Studies
Young Adult
Beckwith-Wiedemann syndrome
Wilms tumour
hemihypertrophy
lateralised overgrowth
score
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
revised:
11
05
2021
received:
03
07
2020
accepted:
12
05
2021
pubmed:
17
5
2021
medline:
27
1
2022
entrez:
16
5
2021
Statut:
ppublish
Résumé
The congenital imprinting disorder, Beckwith-Wiedemann syndrome (BWS) is associated with variable clinical features including hemihypertrophy/lateralised overgrowth (LO) and embryonal tumour predisposition. BWS-associated (epi)genetic alterations occur in a subset of patients with isolated LO (ILO), leading to the concept of BWS spectrum disorder (BWSp). We investigated the relationship between clinical features and molecular diagnostic results in a cohort with LO using the BWSp international consensus group (BWSICG) clinical scoring system. Clinical/molecular findings in 94 previously-unreported patients with LO referred for BWSp molecular studies were reviewed retrospectively. The BWSICG score was assigned and diagnostic rate calculated. BWSp-associated (epi)genetic alteration was identified in 15/94 (16%). The molecular diagnostic rate by MS-MLPA (blood DNA) for BWS-related molecular findings in patients with LO was positively correlated with the BWSICG score. 3/48 with ILO had a molecular alteration. No individuals with ILO had developed an embryonal tumour at last follow up. Among a cohort of individuals with LO referred for BWSp molecular testing, the BWSICG score correlated with diagnostic yield. The embryonal tumour risk in children with ILO and negative molecular testing appeared very low, however longer- and more complete follow up is required to better define tumour risks in this group.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
292-297Subventions
Organisme : National Institute for Health Research
Informations de copyright
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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