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16p11.2微缺失综合征的研究进展
傅冬梅
郭奇伟
周裕林
作者及单位信息
·
DOI： 10.3760/cma.j.issn.1673-4386.2017.04.012
Research progress in 16p11.2 microdeletion syndrome
Fu Dongmei
Guo Qiwei
Zhou Yulin
Authors Info & Affiliations
Fu Dongmei
Combined Molecular Genetic Testing Research Center of School of Public Health, Xiamen University & Maternal and Child Health Hospital of Xiamen, Xiamen 361003, China
Guo Qiwei
Zhou Yulin
·
DOI： 10.3760/cma.j.issn.1673-4386.2017.04.012
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摘要

16p11.2微缺失综合征是一类先天性基因缺失的疾病，其人群发生率约为万分之三。该综合征的临床表现包括自闭症、发育迟缓、智力低下、脊柱畸形等一系列神经精神发育疾病，患者间表型异质性明显，而其致病机制目前尚未明确。本文从16p11.2微缺失的类型、临床表型、致病机制、检测技术等方面综述其研究进展，以便更好地为16p11.2微缺失综合征的机制研究和临床诊治提供帮助。

16p11.2;缺失;表型;异质性
ABSTRACT

16p11.2 microdeletion syndrome is one of the congential genetic diseases displaying autism, intellectual disability (ID), developmental delay (DD), spinal deformity and so on, the incidence of which is approximately three over ten thousand. The phenotypic heterogeneity is significant among patients, but the pathogenic mechanism underlying 16p11.2 microdeletion syndrome is still uncertain. Here, we review the types, clinical phenotypes, possible pathogenic mechanisms and detection technology of 16p11.2 microdeletion syndrome to provide some help for mechanistic study and clinical diagnosis and treatment.

16p11.2;Deletion;Phenotypes;Heterogeneity
Zhou Yulin. E-mail: mocdef.6ab21niluy_uohz
Joint Key Program of Important and Critical Diseases of Xiamen City (3502Z20149030)
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引用本文

傅冬梅,郭奇伟,周裕林. 16p11.2微缺失综合征的研究进展[J]. 国际遗传学杂志,2017,40(4)：247-252.

DOI:10.3760/cma.j.issn.1673-4386.2017.04.012

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随着人们对复杂疾病的深入研究和基因诊断技术的不断发展，越来越多微缺失综合征被不断发现。16p11.2微缺失综合征即为其中一项。2008年Kumar等 [ 1 ]在自闭症谱系障碍(autism spectrum disorders，ASDs)病因的研究中发现患者16p11.2微缺失，首次提出将16p11.2微缺失综合征作为疾病诊断名称。16p11.2微缺失综合征是一类基因缺陷性疾病，其临床表型有：ASDs、智力低下(intellectual disability，ID)、发育迟缓(developmental delay，DD)、癫痫、脊柱畸形等。16p11.2区域两端都有一段长约147 kb低拷贝重复序列(low copy repeats，LCRs)，其99.5%序列同源使得在细胞分裂过程中易引起同源染色体上非等位基因的重组，导致16p11.2片段发生缺失或重复 [ 2 , 3 , 4 ]。
16p11.2微缺失综合征的患者间表型异质性明显，具有相同基因型的个体表型各异，可表现为正常或异常 [ 2 , 3 , 5 ]，且其外显率不同；同一家系内携带者的表型也存在异质性，如缺失部位相同的同卵双胞胎临床表现差异巨大等。因此，本文将从16p11.2微缺失的类型、临床表型、致病机制、检测技术等方面的研究进展作一综述。
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备注信息
A
周裕林(E-mail： mocdef.6ab21niluy_uohz)
B
厦门市重要重大疾病联合攻关项目 (3502Z20149030)
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