Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder.
Erdem Kındış, Elif Eviz, Serdar Ceylaner
✦ AI-curated · Sources linked
Case in brief
Two siblings presented with neurodevelopmental delay and multiple congenital anomalies, including esophageal atresia and developmental dysplasia of the hip. Whole-exome sequencing revealed a novel homozygous nonsense variant in the PAN2 gene in the older sibling, confirming the genetic basis of their condition. This case adds to the understanding of PAN2-related disorders and their phenotypic variability.
Diagnostic / clinical pearl
Clinicians should consider PAN2-related disorders in patients with neurodevelopmental delay and congenital anomalies, particularly when esophageal atresia and hip dysplasia are present.
Why it matters
This case highlights the expanding phenotypic spectrum associated with PAN2 mutations, emphasizing the need for awareness of additional clinical features in genetic counseling and diagnosis.