Fetal growth patterns in Beckwith-Wiedemann syndrome.
Clin Genet
; 90(1): 21-7, 2016 Jul.
Article
in En
| MEDLINE
| ID: mdl-26857110
ABSTRACT
We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS) IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 247 BWS patients were compared by calculating gestational age-corrected standard deviation scores (SDS) and proportionality indexes to search for differences among IC1-GoM (n = 21), UPD (n = 87), IC2-LoM (n = 147), and CDKN1C mutation (n = 11) patients. In IC1-GoM subgroup, weight and length are higher than in other subgroups. Body proportionality indexes display the following pattern highest in IC1-GoM patients, lowest in IC2-LoM/CDKN1C patients, intermediate in UPD ones. Prematurity was significantly more prevalent in the CDKN1C (64%) and IC2-LoM subgroups (37%). Fetal growth patterns are different in the four molecular subtypes of BWS and remarkably consistent with altered gene expression primed by the respective molecular mechanisms. IC1-GoM cases show extreme macrosomia and severe disproportion between weight and length excess. In IC2-LoM/CDKN1C patients, macrosomia is less common and associated with more proportionate weight/length ratios with excess of preterm birth. UPD patients show growth patterns closer to those of IC2-LoM, but manifest a body mass disproportion rather similar to that seen in IC1-GoM cases.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Beckwith-Wiedemann Syndrome
/
Genomic Imprinting
/
DNA Methylation
/
Uniparental Disomy
/
Fetal Development
/
Cyclin-Dependent Kinase Inhibitor p57
Type of study:
Diagnostic_studies
/
Observational_studies
Limits:
Humans
/
Newborn
Language:
En
Journal:
Clin Genet
Year:
2016
Document type:
Article
Affiliation country:
Italia