Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

ABSTRACT:

Purpose

To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability.

Methods

Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein.

Results

Recurrent clinical features included neurodevelopmental impairment (19/19), absent/near absent speech (16/19), normal somatic growth (17/19), cleft palate (9/19), drooling (12/19), and dental anomalies (8/19). Six of eight missense variants clustered in the first CUT domain. Sibling recur

SUBMITTER: Bengani H 

PROVIDER: S-EPMC5548934 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature