Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.

ABSTRACT:

Background

Calcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We delineate the spectrum of clinical phenotypes and the symptoms associated with a syndrome caused by an inherited gain-of-function mutation in CACNA1D in a family with a history of neuropsychiatric disorders. We also review the clinical and molecular phenotype of previously reported variants of CACNA1D.

Case presentation

We report the case of a 9-year-old female patient, diagnosed with ASD, severe ID, hyperactivity, and aggressive impulsive behaviors. The father, who was a 65-year-old at the time of his death, had ID an

SUBMITTER: Alzahrani A 

PROVIDER: S-EPMC10140517 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature