Novel de novo Variants in the BCL11A and RYR1 Genes in a Patient with Dias-Logan Syndrome and Elevated Creatine Kinase
Year: 2024
Type: article
Study design: Case Report
Abstract: Dias-Logan syndrome, also known as BCL11A-related intellectual disability, is caused by pathogenic variants in the BCL11A gene and yields a variety of signs and symptoms, including developmental delay, intellectual disability, microcephaly, and persistent fetal hemoglobin. The RYR1 gene encodes the RyR1 protein of skeletal muscle and has been linked to increased susceptibility to malignant hyperthermia and various congenital myopathies. We describe the case of a 2-year-old male with mutations in both BCL11A and RYR1 genes leading to an unusual presentation of Dias-Logan syndrome with global developmental delay, hypertonia, and elevated creatine kinase (CK).
DOI: 10.36959/595/448
Authors: Boswell Zachary, Lawson Louisa
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4407971247