[一名患有全面发育迟缓及多种先天性异常的中国患者中17q25.3重复的鉴定]
[Identification of a 17q25.3 duplication in a Chinese patient with global developmental delay and multiple congenital anomalies].
作者信息
Wang Qingming, Li Qiaoyi, Xu Qiuhong, Liu Yanhui, Yuan Haiming
机构信息
Dongguan Maternal and Child Health Care Hospital, Dongguan Institute of Reproductive and Genetic Research, Dongguan, Guangdong 523120, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):52-56. doi: 10.3760/cma.j.issn.1003-9406.2020.01.014.
OBJECTIVE
To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.
METHODS
Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members.
RESULTS
A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.
CONCLUSION
Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.
目的
明确一名患有17q25.3重复的中国患者的临床特征、遗传模式及基因型-表型相关性。
方法
采用全外显子组测序（WES）、染色体微阵列分析（CMA）、染色体核型分析及荧光原位杂交（FISH）对先证者及其家庭成员进行分析。
结果
通过WES和CMA在这名患有多种先天性异常的4岁男孩中鉴定出17q25.3→qter区域存在5.7 Mb的重复，该重复被分类为临床致病变异。此重复通过FISH得以证实，且遗传自其未受影响的母亲，其母亲携带平衡易位。进一步研究发现，他的祖母也携带平衡易位，但已孕育三个健康子女且无流产史。他的叔叔也携带平衡易位，而他的姑姑正常。
结论
上述结果丰富了17q25.3重复的临床表型。为该家庭提供了遗传咨询。P4HB、ACTG1、BAIAP2和TBCD基因可能是17q25.3重复临床特征的潜在原因。
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