1p36缺失综合征合并Snijders Blok-Campeau综合征1例患者的遗传学分析

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中文摘要：目的对1例病因不明、发育迟缓、特殊面容的患者进行基因检测，以明确其遗传学病因。方法选取2021年5月27日因"婚后10个月夫妻同居、未避孕不孕"就诊于甘肃省妇幼保健院的1例患者为研究对象。收集患者的临床资料，提取患者及其父母的外周血DNA，进行全外显子组测序(WES)，对候选致病变异进行Sanger测序家系验证。结果患者1p36.33p36.32区检测出2.54 Mb的杂合缺失，CHD3基因检测出c.1123G>C(p.E375Q)杂合变异，其父母均未携带上述变异。结论本研究确诊了1例染色体1p36缺失综合征合并Snijders Blok-Campeau综合征患者，为患者的遗传咨询提供了依据。 Objective To explore the genetic basis for a patient with unexplained developmental delay and special facial features. Methods A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing. Results The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c. 1123G>C (p.E375Q) variant of theCHD3 gene, neither of which was detected in his parents. Conclusion The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.

外文标题：Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome

外文摘要：Objective To explore the genetic basis for a patient with unexplained developmental delay and special facial features. Methods A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing. Results The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c. 1123G>C (p.E375Q) variant of theCHD3 gene, neither of which was detected in his parents. Conclusion The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.

外文关键词：

Intellectual disabilityChromosome 1p36 deletion syndromeSnijders Blok-Campeau syndromeCHD3 geneDevelopmental delay

作者：

陈慧芳、张钏、周秉博、王玉佩、陈雪、惠玲、鞠翠钰

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作者单位：

甘肃中医药大学公共卫生学院，兰州　730030

2甘肃省妇幼保健院医学遗传中心/甘肃省出生缺陷与罕见病临床研究中心，兰州　730050

甘肃省妇幼保健院医学遗传中心/甘肃省出生缺陷与罕见病临床研究中心，兰州　730050

关键词：

智力障碍染色体1p36缺失综合征 Snijders Blok-Campeau综合征 CHD3基因发育迟缓

基金：

国家科技资源共享服务平台项目甘肃省科技厅创新基地及人才计划兰州市科技计划甘肃省科技计划

项目编号：

YCZYPT[2020]05-0321JR7RA6802021-1-18222YF7FA094

出版年：

2024

DOI：

10.3760/cma.j.cn511374-20230108-00016

中华医学遗传学杂志

中华医学会

中华医学遗传学杂志

CSTPCD

影响因子：0.562

ISSN：1003-9406

年,卷(期)：2024.41(3)

参考文献量19