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.

研究者报道了1例7月龄男性患儿，其存在多种PHS相关临床表型，包括鞍上病变、会厌分叉、气管憩室、喉软化症、左手多指并指畸形以及网膜疝。该患儿的鞍上病变接受了部分切除术，研究者对其切除的肿瘤样本、外周血样本以及其父母的血液样本实施了全外显子组测序（whole-exome sequencing）。病理学检查确诊为下丘脑错构瘤（hypothalamic hamartoma），分子谱分析显示GLI3基因中存在疑似致病性新发变异。