1例新生儿常染色体显性智力障碍21型病例报告

Autosomal dominant intellectual disability type 21 in a neonate

摘要:

1例1日龄男性新生儿因哭声弱1 d，反复唇周青紫2 h入院。患儿出生时有特殊面容，双手通贯掌，扁平足，哭声弱，喂养困难，合并先天性心脏病，头颅MRI异常。全外显子组测序分析显示CTCF基因第3外显子c.778_781delAAAG （p.Lys260ValfsTer2）新发突变，蛋白功能预测提示为致病突变，可能损害CTCF蛋白功能。结合患儿的临床表现和遗传分析结果，诊断为常染色体显性智力障碍21型。该病例提示，对于临床上有不明原因喂养困难，不能用感染、缺氧等原因进行解释的新生儿，应尽早进行遗传学分析，以帮助早期诊断和遗传咨询。

Abstract:

This is a case report on a 1-day-old male neonate admitted due to a weak cry for 1 day and recurrent circumoral cyanosis for 2 hours. He had unusual facial features at birth, with a single transverse palmar crease on both hands, flat feet, weak cry, feeding difficulties, congenital heart disease, and abnormality on cerebral MRI. Whole exome sequencing showed a de novo mutation, c.778_781delAAAG(p.Lys260ValfsTer2), in exon 3 of the CTCF gene, which was considered a pathogenic mutation by protein function prediction and might damage the function of CTCF protein. He was diagnosed with autosomal dominant intellectual disability type 21 based on the clinical manifestations and genetic analysis results. This case suggests that genetic analysis should be performed as early as possible for neonates with feeding difficulties which cannot be explained by infection or hypoxia, so as to help with early diagnosis and genetic counselling.