1例环状22号染色体伴22q13.3微缺失综合征患儿的遗传学分析

汪伟伟; 杨广明; 贺薷萱; 陈哲晖; 田亚平; 杨艳玲; 沈鸣

doi:10.3969/j.issn.2095-5227.2021.09.012

1例环状22号染色体伴22q13.3微缺失综合征患儿的遗传学分析

Genetic analysis of a child with ring chromosome 22 and 22q13.3 microdeletion

摘要

摘要:
背景 22号染色体q13.3区域的缺失被认为与患者自闭症和智力障碍有关，现认为SHANK3基因是关键基因，但其他基因对疾病严重程度的贡献并不明确。
目的分析1例自闭症、癫痫且行为异常患儿的遗传学病因。
方法 2018年北京大学第一医院接诊的1例因运动落后、行为异常就诊的6岁8个月男性患儿，应用G显带染色体核型分析、染色体微阵列分析(chromosomal microarray analysis，CMA)技术检测染色体变异，查阅数据库并文献分析，明确缺失片段和致病基因的意义。
结果患儿外周血G显带染色体核型分析显示22号染色体环状改变，CMA发现患儿22q13.3区域存在4.9 Mb微缺失。
结论患儿22q13.3微缺失包含关键基因SHANK3，为明确其病因和遗传咨询提供重要线索。

Abstract:
Background The 22q13.3 deletion is thought to be associated with autism spectrum disorder, and SHANK3 gene is suggested as the key gene, but the contribution of other genes to the disease is not clear.
Objective To analyze the genetic etiology of one child with autism, seizures and behavioral abnormality.
Methods A 6-year and 8-month-old boy who presented with motor delay and behavioral abnormalities was admitted to Peking University First Hospital in 2018. The patient was subjected to conventional G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA). Databases and literatures were reviewed to clarify the significance of the missing fragments and pathogenic genes.
Results The karyotype of the child showed ring chromosome 22, and CMA identified a 4.9 Mb deletion at 22q13.3.
Conclusion The 22q13.3 microdeletion of this patient contains a key gene, SHANK3. The results may provide clues for his condition and genetic counseling for the family.

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