Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

ABSTRACT:

Purpose

To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients.

Methods

Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information.

Results

The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%,

SUBMITTER: Torti E 

PROVIDER: S-EPMC7171701 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature