Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

SATB2-Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have been described in the literature. We describe 17 additional indi...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Zarate, Y.A, Bosanko, K.A, Thomas, M.A, Miller, D.T, Cusmano‐Ozog, K, Martinez‐Monseny, A, Curry, C.J, Graham, J.M, Velsher, L, Bekheirnia, M.R, Seidel, V, Dedousis, D, Mitchell, A.L, DiMarino, A.M, Riess, A, Balasubramanian, M, Fish, J.L, Caffrey, A.R, Fleischer, N, Pierson, T.M, Lacro, R.V
Format: Artikel
Sprache:eng
Online-Zugang:Volltext bestellen
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:SATB2-Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have been described in the literature. We describe 17 additional individuals with ΔSAS, review the phenotype of 33 previously published individuals with 2q33.1 deletions (n = 50, mean age = 8.5 ± 7.8 years), and provide a comprehensive comparison to individuals with other molecular mechanisms that result in SAS (non-ΔSAS). Individuals in the ΔSAS group were often underweight for age (20/41 = 49%) with a progressive decline in weight (95% CI = −2.3 to −1.1, p 
DOI:10.1111/cge.13912