Whole-exome sequencing of hypothalamic hamartoma from an infant with Pallister-Hall syndrome revealed novel de novo mutation in the GLI3

The authors describe a 7 month old boy with a range of PHS features, including a suprasellar lesion, bifid epiglottis, tracheal diverticulum, laryngomalacia, left-handed polydactyly and syndactyly, and omental hernia. His suprasellar lesion was partially removed, and whole-exome sequencing was performed on the resected tumour sample, his peripheral blood sample, and blood from his parents. Pathology confirmed the diagnosis of hypothalamic hamartoma, and molecular profiling revealed a likely pathogenic de novo variant in GLI3.