Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.

ABSTRACT:

Objective

To analyze the clinical and genetic characteristics of a patient with long QT syndrome type 14 (long QT syndrome-14, LQT14, OMIM # 616247) caused by a de novo CALM1 mutation.

Methods

The clinical data of the patient were collected, next-generation sequencing technology was used to determine the exome gene sequence of the patient, and the suspected pathogenic locus was verified by Sanger sequencing.

Results

A 5-year and 9-month-old girl was admitted to the hospital due to a syncopal episode. During the attack, the main symptoms were loss of consciousness, cyanosis of the face and lips, and weakness of limbs. The child had multiple seizures in the past, all of which occurred after emotional excitement and activity. She was diagnosed with epilepsy for more than

SUBMITTER: Sun Q 

PROVIDER: S-EPMC10767591 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature