Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kucinskas Syndrome: A New Case Report and a Review of the Literature.

ABSTRACT:

Background

Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot, and global developmental delay. Most reported cases were cases of premature termination of pregnancies or neonatal deaths. To date, limited studies of nine surviving patients with global developmental delay and intellectual disability have been reported. In this study, we report another surviving patient.

Methods

Whole-exome sequencing was utilized for the proband, and variants were filtered, annotated, and classified. Candidate variants were validated by Sanger sequencing of the proband and his family. The literature was reviewed; the prognosis among different regions and the variant

SUBMITTER: Yue L 

PROVIDER: S-EPMC8931281 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature