背景:全外显子组测序可以快速鉴定先天性异常和/或智力障碍儿童的致病单核苷酸变异和短插入/缺失,有助于准确诊断,预后,适当的治疗干预措施,家庭咨询。最近,MED13基因的从头变异在智力发育障碍患者中被描述,包括整体发育迟缓,轻度先天性心脏异常,以及一些患者的听力和视力问题。
结果:在这里,我们描述了一个在MED13基因中携带从头p.Pro835Ser错义变异的婴儿,根据整个外显子组三重奏测序。他有先天性心脏异常,变形特征,脑积水改变,胼胝体发育不良,双侧视神经萎缩,视交叉萎缩,脑干萎缩,与先前描述的患者相比,总体上病情更严重。
结论:因此,我们建议扩大MED13相关表型,包括可能导致多器官功能衰竭和新生儿死亡的严重并发症.
BACKGROUND: Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in accurate diagnosis, prognosis, appropriate therapeutic interventions, and family counselling. Recently, de novo variants in the MED13 gene were described in patients with an intellectual developmental disorder that included global developmental delay, mild congenital heart anomalies, and hearing and vision problems in some patients.
RESULTS: Here we describe an infant who carried a de novo p.Pro835Ser missense variant in the MED13 gene, according to whole exome trio sequencing. He presented with congenital heart anomalies, dysmorphic features, hydrocephalic changes, hypoplastic corpus callosum, bilateral optic nerve atrophy, optic chiasm atrophy, brain stem atrophy, and overall a more severe condition compared to previously described patients.
CONCLUSIONS: Therefore, we propose to expand the MED13-associated phenotype to include severe complications that could end up with multiple organ failure and neonatal death.