罕见ICF综合征1例临床表型和分子遗传学分析

doi:10.3969/j.issn.1000-3606.2019.08.016

临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (8): 621-.doi: 10.3969/j.issn.1000-3606.2019.08.016

罕见ICF综合征1例临床表型和分子遗传学分析

陆勇刚 1,2,　姚如恩 1,　李牛 1,　郁婷婷 1,　王秀敏 1,3,　沈亦平 1,4,　王剑 1

1. 上海交通大学医学院附属上海儿童医学中心医学遗传科（分子诊断实验室）（上海　200127）；2. 上海交通大学医学院附属国际和平妇幼保健院生殖遗传科（上海　200030）；3. 上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科（上海　200127）；4. 美国哈佛大学医学院附属波士顿儿童医院基因诊断实验室（美国波士顿　02115）

发布日期:2019-08-09

Analysis of clinical phenotype and molecular genetics of a rare case of ICF syndrome

　LU Yonggang1,2, YAO Ruen1, LI Niu1, YU Tingting1, WANG Xiumin1,3, SHEN Yiping1,4, WANG Jian1

1. The Medical Genetics Department of Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine (The Molecular Diagnostic Lab), Shanghai 200127; 2. The International Peace Maternityand Child Health Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (Reproductive Genetics Lab), Shanghai 200030; 3. The Hereditary Endocrine and Metabolic Department of Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127; 4. The Genetic Diagnostic Lab of Boston Children’s Hospital Affiliated to Harvard Medical School, Boston 02115

Published:2019-08-09

摘要/Abstract

摘要： 　目的　探讨免疫缺陷、着丝粒不稳定和面部异常（ICF）综合征的临床特征和遗传特点。方法　回顾分析1 例ICF综合征患儿的临床资料和基因检测结果。结果　男性患儿， 4岁，有反复感染；面部特征为圆脸、眼距稍宽、下颌尖、鼻梁稍扁、内眦赘皮明显、耳位低。免疫学检测示IgA缺如。基因测序发现患儿DNMT3B基因存在一个纯合错义突变 c.2506G>A，父母为杂合携带者，确诊为ICF综合征I型。结论　DNMT3B基因突变可引发ICF综合征，基因检测有助于提高此类罕见病的诊断。

关键词: 　ICF综合征；　临床表现；　DNMT3B基因突变；　基因测序

Abstract: Objective　To investigate the clinical and genetic characteristics of immunodeficiency, centromeric instability and facial anomalies syndrome (ICF) and promote recognition of this disorder among Chinese population. Methods　A retrospective review of the clinical characteristics, immunoassay and gene sequencing data of this ICF syndrome was conducted. Results　The main symptom of the patient was recurrent infection. Facial dysmorphism was mild, including a round face, hypertelorism, pointed chin, flat nasal bridge, epicanthus and low-set ears. Immunodeficiency was observed in the patient and IgA level was almost null. A homozygous missense mutation c.2506G>A was found in DNMT3B by gene sequencing, and his parents were both heterozygous mutation carriers. This case was designated as ICFⅠpatient. Conclusion　Mutation in DNMT3B is the cause of ICF syndrome. Clinical features and gene test can help confirm this rare genetic disease.

Key words: 　ICF syndrome;　clinical manifestations;　mutation of DNMT3B;　gene sequencing

陆勇刚，姚如恩，李　牛，等. 罕见ICF综合征1例临床表型和分子遗传学分析[J]. 临床儿科杂志, 2019, 37(8): 621-.

LU Yonggang, YAO Ruen, LI Niu, et al. Analysis of clinical phenotype and molecular genetics of a rare case of ICF syndrome[J]. Journal of Clinical Pediatrics, 2019, 37(8): 621-.

罕见ICF综合征1例临床表型和分子遗传学分析

Analysis of clinical phenotype and molecular genetics of a rare case of ICF syndrome

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