Genome Sequencing Identifies Two Patients with Jeffries-Lakhani Neurodevelopmental Syndrome

Background
• Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is a recently-described autosomal recessive condition associated with CRELD1. Most patients with JELANS have early-onset seizures (median age 5 months), hypotonia, and global developmental delay (DD). Many have dysmorphic features, feeding difficulties, and cardiac arrhythmias.
• CRELD1 has a critical role in development of the neurological and cardiac systems.
• With less than 25 individuals published in the literature, the phenotypic spectrum is still being defined.
• Here, we describe two unrelated patients diagnosed with JELANS through trio genome sequencing (GS) at our clinical laboratory to improve understanding of the phenotype and clinical management for affected patients.