TRAPPC9 deficiency’s implication in “secondary” autism spectrum disorders

ABSTRACT:

Introduction

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes. Multiple intellectual disability (ID) susceptibility genes have been identified in ASDs to date. The trafficking protein particle complex subunit 9 TRAPPC9 (OMIM#611966) in an autosomal recessive intellectual disability (ID) gene associated with not fully penetrant phenotype combining secondary microcephaly, dysmorphic facial features, obesity, autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD).

Objectives

The aim of this study is to consider TRAPPC9 deficiency in autosomal recessive ID with ASD.

Methods

We present the observation of two siblings, born to Tunisian consanguineous and healthy parents, f

SUBMITTER: Majdoub F 

PROVIDER: S-EPMC10434616 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature