Fetal growth patterns in Beckwith-Wiedemann syndrome

作者：Mussa A; Russo S; de Crescenzo A; Freschi A; Calzari L; Maitz S; Macchiaiolo M; Molinatto C; Baldassarre G; Mariani M; Tarani L; Bedeschi M F; Milani D; Melis D; Bartuli A; Cubellis M V; Selicorni A; Silengo M C; Larizza L; Riccio A; Ferrero G B

来源：Clinical Genetics, 2016, 90(1): 21-27.

DOI：10.1111/cge.12759

<jats:p>We provide data on fetal growth pattern on the molecular subtypes of Beckwith–Wiedemann syndrome (<jats:styled-content style="fixed-case">BWS</jats:styled-content>): <jats:styled-content style="fixed-case">IC1</jats:styled-content> gain of methylation (<jats:styled-content style="fixed-case">IC1‐GoM</jats:styled-content>), <jats:styled-content style="fixed-case">IC2</jats:styled-content> loss of methylation (<jats:styled-content style="fixed-case">IC2‐LoM</jats:styled-content>), 11p15.5 paternal uniparental disomy (<jats:styled-content style="fixed-case">UPD</jats:styled-content>), and <jats:italic><jats:styled-content style="fixed-case">CDKN1C</jats:styled-content></jats:italic> mutation. In this observational study, gestational ages and neonatal growth parameters of 247 <jats:styled-content style="fixed-case">BWS</jats:styled-content> patients were compared by calculating gestational age‐corrected standard deviation scores (<jats:styled-content style="fixed-case">SDS</jats:styled-content>) and proportionality indexes to search for differences among <jats:styled-content style="fixed-case">IC1‐GoM</jats:styled-content> (<jats:italic>n</jats:italic> = 21), <jats:styled-content style="fixed-case">UPD</jats:styled-content> (<jats:italic>n</jats:italic> = 87), <jats:styled-content style="fixed-case">IC2‐LoM</jats:styled-content> (<jats:italic>n</jats:italic> = 147), and <jats:italic><jats:styled-content style="fixed-case">CDKN1C</jats:styled-content></jats:italic> mutation (<jats:italic>n</jats:italic> = 11) patients. In <jats:styled-content style="fixed-case">IC1‐GoM</jats:styled-content> subgroup, weight and length are higher than in other subgroups. Body proportionality indexes display the following pattern: highest in <jats:styled-content style="fixed-case">IC1‐GoM</jats:styled-content> patients, lowest in <jats:styled-content style="fixed-case">IC2‐LoM</jats:styled-content>/<jats:italic><jats:styled-content style="fixed-case">CDKN1C</jats:styled-content></jats:italic> patients, intermediate in <jats:styled-content style="fixed-case">UPD</jats:styled-content> ones. Prematurity was significantly more prevalent in the <jats:italic><jats:styled-content style="fixed-case">CDKN1C</jats:styled-content></jats:italic> (64%) and <jats:styled-content style="fixed-case">IC2‐LoM</jats:styled-content> subgroups (37%). Fetal growth patterns are different in the four molecular subtypes of <jats:styled-content style="fixed-case">BWS</jats:styled-content> and remarkably consistent with altered gene expression primed by the respective molecular mechanisms. <jats:styled-content style="fixed-case">IC1‐GoM</jats:styled-content> cases show extreme macrosomia and severe disproportion between weight and length excess. In <jats:styled-content style="fixed-case">IC2‐LoM</jats:styled-content>/<jats:italic><jats:styled-content style="fixed-case">CDKN1C</jats:styled-content></jats:italic> patients, macrosomia is less common and associated with more proportionate weight/length ratios with excess of preterm birth. <jats:styled-content style="fixed-case">UPD</jats:styled-content> patients show growth patterns closer to those of <jats:styled-content style="fixed-case">IC2‐LoM</jats:styled-content>, but manifest a body mass disproportion rather similar to that seen in <jats:styled-content style="fixed-case">IC1‐GoM</jats:styled-content> cases.</jats:p>

• 出版日期2016-7